Canonical Allele Identifier: CA3043508

Gene: EGF

Linked Data

• ClinVar Variation Id: 1350941
• ClinVar RCV Id: RCV002051439 ; RCV002482436 ; RCV003407840
• dbSNP Id: rs760127815
• ExAC: 4:110866378 A / C
• gnomAD v2: 4-110866378-A-C
• gnomAD v3: 4-109945222-A-C
• gnomAD v4: 4-109945222-A-C
• MyVariant Identifiers: chr4:g.110866378A>C (hg19) ; chr4:g.109945222A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109945222A>C , CM000666.2:g.109945222A>C	GRCh38
NC_000004.11:g.110866378A>C , CM000666.1:g.110866378A>C	GRCh37
NC_000004.10:g.111085827A>C	NCBI36
NG_011441.1:g.37339A>C
NG_011441.2:g.37339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.887A>C MANE Select	ENSP00000265171.5:p.Lys296Thr
ENST00000652245.1:c.887A>C	ENSP00000498337.1:p.Lys296Thr
ENST00000265171.9:c.887A>C	ENSP00000265171.5:p.Lys296Thr
ENST00000503392.1:c.887A>C	ENSP00000421384.1:p.Lys296Thr
ENST00000509793.5:c.887A>C	ENSP00000424316.1:p.Lys296Thr
NM_001178130.1:c.887A>C	NP_001171601.1:p.Lys296Thr
NM_001178131.1:c.887A>C	NP_001171602.1:p.Lys296Thr
NM_001963.4:c.887A>C	NP_001954.2:p.Lys296Thr
XM_005262796.2:c.887A>C	XP_005262853.1:p.Lys296Thr
XM_005262797.2:c.887A>C	XP_005262854.1:p.Lys296Thr
XM_005262798.2:c.887A>C	XP_005262855.1:p.Lys296Thr
XM_005262800.2:c.887A>C	XP_005262857.1:p.Lys296Thr
XM_005262801.2:c.887A>C	XP_005262858.1:p.Lys296Thr
XM_005262802.2:c.887A>C	XP_005262859.1:p.Lys296Thr
XM_006714124.2:c.887A>C	XP_006714187.1:p.Lys296Thr
XM_011531707.1:c.776A>C	XP_011530009.1:p.Lys259Thr
XM_011531708.1:c.887A>C	XP_011530010.1:p.Lys296Thr
XM_011531709.1:c.887A>C	XP_011530011.1:p.Lys296Thr
XR_427532.2:n.1340A>C
XR_938699.1:n.1340A>C
NM_001178130.2:c.887A>C	NP_001171601.1:p.Lys296Thr
NM_001178131.2:c.887A>C	NP_001171602.1:p.Lys296Thr
NM_001357021.1:c.887A>C	NP_001343950.1:p.Lys296Thr
NM_001963.5:c.887A>C	NP_001954.2:p.Lys296Thr
XM_017007845.1:c.911A>C	XP_016863334.1:p.Lys304Thr
XM_017007846.1:c.911A>C	XP_016863335.1:p.Lys304Thr
XM_017007847.1:c.911A>C	XP_016863336.1:p.Lys304Thr
XM_017007848.1:c.911A>C	XP_016863337.1:p.Lys304Thr
XM_017007849.1:c.911A>C	XP_016863338.1:p.Lys304Thr
XM_017007850.1:c.911A>C	XP_016863339.1:p.Lys304Thr
XM_017007851.1:c.911A>C	XP_016863340.1:p.Lys304Thr
XM_017007853.1:c.911A>C	XP_016863342.1:p.Lys304Thr
XM_017007854.1:c.911A>C	XP_016863343.1:p.Lys304Thr
XM_017007855.1:c.911A>C	XP_016863344.1:p.Lys304Thr
XR_001741156.1:n.1364A>C
XR_001741157.1:n.1364A>C
NM_001178130.3:c.887A>C	NP_001171601.1:p.Lys296Thr
NM_001178131.3:c.887A>C	NP_001171602.1:p.Lys296Thr
NM_001357021.2:c.887A>C	NP_001343950.1:p.Lys296Thr
NM_001963.6:c.887A>C MANE Select	NP_001954.2:p.Lys296Thr