Canonical Allele Identifier: CA103713170

Gene: EGF

Linked Data

• dbSNP Id: rs990194181
• gnomAD v2: 4-110925698-T-C
• gnomAD v4: 4-110004542-T-C
• MyVariant Identifiers: chr4:g.110925698T>C (hg19) ; chr4:g.110004542T>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004542T>C , CM000666.2:g.110004542T>C	GRCh38
NC_000004.11:g.110925698T>C , CM000666.1:g.110925698T>C	GRCh37
NC_000004.10:g.111145147T>C	NCBI36
NG_011441.1:g.96659T>C
NG_011441.2:g.96659T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3211T>C MANE Select	ENSP00000265171.5:p.Tyr1071His
ENST00000652245.1:c.2842T>C	ENSP00000498337.1:p.Tyr948His
ENST00000265171.9:c.3211T>C	ENSP00000265171.5:p.Tyr1071His
ENST00000503392.1:c.3088T>C	ENSP00000421384.1:p.Tyr1030His
ENST00000509793.5:c.3085T>C	ENSP00000424316.1:p.Tyr1029His
ENST00000509996.1:n.896T>C
ENST00000537316.5:n.42T>C
ENST00000540840.1:n.42T>C
ENST00000544918.1:n.296T>C
NM_001178130.1:c.3088T>C	NP_001171601.1:p.Tyr1030His
NM_001178131.1:c.3085T>C	NP_001171602.1:p.Tyr1029His
NM_001963.4:c.3211T>C	NP_001954.2:p.Tyr1071His
XM_005262796.2:c.3211T>C	XP_005262853.1:p.Tyr1071His
XM_005262797.2:c.3085T>C	XP_005262854.1:p.Tyr1029His
XM_005262798.2:c.2968T>C	XP_005262855.1:p.Tyr990His
XM_005262800.2:c.2968T>C	XP_005262857.1:p.Tyr990His
XM_005262801.2:c.2492-6660T>C	XP_005262858.1:n.2492-6660T>C
XM_006714124.2:c.3211T>C	XP_006714187.1:p.Tyr1071His
XM_011531707.1:c.3100T>C	XP_011530009.1:p.Tyr1034His
XR_427532.2:n.3225T>C
XR_938699.1:n.3225T>C
NM_001178130.2:c.3088T>C	NP_001171601.1:p.Tyr1030His
NM_001178131.2:c.3085T>C	NP_001171602.1:p.Tyr1029His
NM_001357021.1:c.2842T>C	NP_001343950.1:p.Tyr948His
NM_001963.5:c.3211T>C	NP_001954.2:p.Tyr1071His
XM_017007845.1:c.3235T>C	XP_016863334.1:p.Tyr1079His
XM_017007846.1:c.3235T>C	XP_016863335.1:p.Tyr1079His
XM_017007847.1:c.3112T>C	XP_016863336.1:p.Tyr1038His
XM_017007848.1:c.3109T>C	XP_016863337.1:p.Tyr1037His
XM_017007849.1:c.2992T>C	XP_016863338.1:p.Tyr998His
XM_017007850.1:c.3235T>C	XP_016863339.1:p.Tyr1079His
XM_017007851.1:c.2992T>C	XP_016863340.1:p.Tyr998His
XR_001741156.1:n.3249T>C
XR_001741157.1:n.3249T>C
NM_001178130.3:c.3088T>C	NP_001171601.1:p.Tyr1030His
NM_001178131.3:c.3085T>C	NP_001171602.1:p.Tyr1029His
NM_001357021.2:c.2842T>C	NP_001343950.1:p.Tyr948His
NM_001963.6:c.3211T>C MANE Select	NP_001954.2:p.Tyr1071His