Canonical Allele Identifier: CA4779504

Gene: EYA1

Linked Data

• ClinVar Variation Id: 2499722
• ClinVar RCV Id: RCV003223814
• dbSNP Id: rs750164019
• ExAC: 8:72128977 C / T
• gnomAD v2: 8-72128977-C-T
• gnomAD v3: 8-71216742-C-T
• gnomAD v4: 8-71216742-C-T
• COSMIC: COSM2874834 ; COSM4367952
• MyVariant Identifiers: chr8:g.72128977C>T (hg19) ; chr8:g.71216742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216742C>T , CM000670.2:g.71216742C>T	GRCh38
NC_000008.10:g.72128977C>T , CM000670.1:g.72128977C>T	GRCh37
NC_000008.9:g.72291531C>T	NCBI36
NG_011735.2:g.150491G>A
NG_011735.3:g.336389G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1310G>A MANE Select	ENSP00000342626.3:p.Arg437His
ENST00000388741.7:c.1208G>A	ENSP00000373393.2:p.Arg403His
ENST00000419131.6:c.1205G>A	ENSP00000410176.1:p.Arg402His
ENST00000465115.6:c.*589G>A	ENSP00000428391.1:n.*589G>A
ENST00000493349.2:c.700G>A
ENST00000496494.6:n.1773G>A
ENST00000642391.1:c.*987G>A	ENSP00000496700.1:n.*987G>A
ENST00000643681.1:c.1397G>A	ENSP00000495390.1:p.Arg466His
ENST00000644229.1:c.1292G>A	ENSP00000494568.1:p.Arg431His
ENST00000644424.1:n.380G>A
ENST00000644712.1:c.1289G>A	ENSP00000496188.1:p.Arg430His
ENST00000645793.1:c.1310G>A	ENSP00000496255.1:p.Arg437His
ENST00000647540.1:c.1310G>A	ENSP00000494438.1:p.Arg437His
ENST00000303824.11:c.1292G>A	ENSP00000303221.7:p.Arg431His
ENST00000340726.7:c.1310G>A	ENSP00000342626.3:p.Arg437His
ENST00000388740.4:c.1211G>A	ENSP00000373392.3:p.Arg404His
ENST00000388741.6:c.1208G>A	ENSP00000373393.2:p.Arg403His
ENST00000388742.8:c.1310G>A	ENSP00000373394.4:p.Arg437His
ENST00000388743.6:c.1307G>A	ENSP00000373395.2:p.Arg436His
ENST00000419131.5:c.1205G>A	ENSP00000410176.1:p.Arg402His
ENST00000465115.5:c.*589G>A	ENSP00000428391.1:n.*589G>A
ENST00000493349.1:c.*255G>A	ENSP00000428517.1:n.*255G>A
ENST00000496494.5:n.1805G>A
NM_000503.5:c.1310G>A	NP_000494.2:p.Arg437His
NM_001288574.1:c.1292G>A	NP_001275503.1:p.Arg431His
NM_001288575.1:c.944G>A	NP_001275504.1:p.Arg315His
NM_172058.3:c.1310G>A	NP_742055.1:p.Arg437His
NM_172059.3:c.1205G>A	NP_742056.1:p.Arg402His
NM_172060.3:c.1211G>A	NP_742057.1:p.Arg404His
XM_011517481.1:c.1382G>A	XP_011515783.1:p.Arg461His
XM_011517482.1:c.1397G>A	XP_011515784.1:p.Arg466His
XM_011517483.1:c.1307G>A	XP_011515785.1:p.Arg436His
XM_011517484.1:c.1295G>A	XP_011515786.1:p.Arg432His
XM_011517485.1:c.1310G>A	XP_011515787.1:p.Arg437His
XM_011517486.1:c.1310G>A	XP_011515788.1:p.Arg437His
XM_011517487.1:c.1310G>A	XP_011515789.1:p.Arg437His
XM_011517488.1:c.1307G>A	XP_011515790.1:p.Arg436His
XM_011517489.1:c.1247G>A	XP_011515791.1:p.Arg416His
XM_011517490.1:c.1211G>A	XP_011515792.1:p.Arg404His
XM_011517491.1:c.1211G>A	XP_011515793.1:p.Arg404His
XM_011517492.1:c.959G>A	XP_011515794.1:p.Arg320His
NM_172059.4:c.1292G>A	NP_742056.2:p.Arg431His
XM_011517483.2:c.1307G>A	XP_011515785.1:p.Arg436His
XM_011517484.3:c.1382G>A	XP_011515786.2:p.Arg461His
XM_017013201.1:c.1397G>A	XP_016868690.1:p.Arg466His
XM_017013202.1:c.1397G>A	XP_016868691.1:p.Arg466His
XM_017013203.2:c.1394G>A	XP_016868692.1:p.Arg465His
XM_017013204.2:c.1379G>A	XP_016868693.1:p.Arg460His
XM_017013205.2:c.1397G>A	XP_016868694.1:p.Arg466His
XM_017013206.1:c.1310G>A	XP_016868695.1:p.Arg437His
XM_017013207.2:c.1307G>A	XP_016868696.1:p.Arg436His
XM_017013208.2:c.1307G>A	XP_016868697.1:p.Arg436His
XM_017013210.2:c.1289G>A	XP_016868699.1:p.Arg430His
XM_017013211.2:c.1247G>A	XP_016868700.1:p.Arg416His
XM_017013212.2:c.1211G>A	XP_016868701.1:p.Arg404His
XM_017013213.1:c.959G>A	XP_016868702.1:p.Arg320His
NM_000503.6:c.1310G>A MANE Select	NP_000494.2:p.Arg437His
NM_001288574.2:c.1292G>A	NP_001275503.1:p.Arg431His
NM_001288575.2:c.944G>A	NP_001275504.1:p.Arg315His
NM_001370333.1:c.1397G>A	NP_001357262.1:p.Arg466His
NM_001370334.1:c.1310G>A	NP_001357263.1:p.Arg437His
NM_001370335.1:c.1310G>A	NP_001357264.1:p.Arg437His
NM_001370336.1:c.1289G>A	NP_001357265.1:p.Arg430His
NM_172058.4:c.1310G>A	NP_742055.1:p.Arg437His
NM_172059.5:c.1292G>A	NP_742056.2:p.Arg431His