Canonical Allele Identifier: CA2706786033

Gene: EGF

Linked Data

• dbSNP Id: rs2126207377

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110011773T>C , CM000666.2:g.110011773T>C	GRCh38
NC_000004.11:g.110932929T>C , CM000666.1:g.110932929T>C	GRCh37
NC_000004.10:g.111152378T>C	NCBI36
NG_011441.1:g.103890T>C
NG_011441.2:g.103890T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.*318T>C MANE Select	ENSP00000265171.5:n.*318T>C
ENST00000652245.1:c.*461T>C	ENSP00000498337.1:n.*461T>C
ENST00000265171.9:c.*318T>C	ENSP00000265171.5:n.*318T>C
ENST00000509793.5:c.*318T>C	ENSP00000424316.1:n.*318T>C
ENST00000540840.1:n.230-353T>C
NM_001178130.1:c.*318T>C	NP_001171601.1:n.*318T>C
NM_001178131.1:c.*318T>C	NP_001171602.1:n.*318T>C
NM_001963.4:c.*318T>C	NP_001954.2:n.*318T>C
XM_005262796.2:c.*318T>C	XP_005262853.1:n.*318T>C
XM_005262797.2:c.*318T>C	XP_005262854.1:n.*318T>C
XM_005262798.2:c.*318T>C	XP_005262855.1:n.*318T>C
XM_005262800.2:c.*461T>C	XP_005262857.1:n.*461T>C
XM_005262801.2:c.*318T>C	XP_005262858.1:n.*318T>C
XM_006714124.2:c.*461T>C	XP_006714187.1:n.*461T>C
XM_011531707.1:c.*318T>C	XP_011530009.1:n.*318T>C
NM_001178130.2:c.*318T>C	NP_001171601.1:n.*318T>C
NM_001178131.2:c.*318T>C	NP_001171602.1:n.*318T>C
NM_001357021.1:c.*461T>C	NP_001343950.1:n.*461T>C
NM_001963.5:c.*318T>C	NP_001954.2:n.*318T>C
XM_017007845.1:c.*318T>C	XP_016863334.1:n.*318T>C
XM_017007846.1:c.*318T>C	XP_016863335.1:n.*318T>C
XM_017007847.1:c.*318T>C	XP_016863336.1:n.*318T>C
XM_017007848.1:c.*318T>C	XP_016863337.1:n.*318T>C
XM_017007849.1:c.*318T>C	XP_016863338.1:n.*318T>C
XM_017007850.1:c.*461T>C	XP_016863339.1:n.*461T>C
XM_017007851.1:c.*461T>C	XP_016863340.1:n.*461T>C
NM_001178130.3:c.*318T>C	NP_001171601.1:n.*318T>C
NM_001178131.3:c.*318T>C	NP_001171602.1:n.*318T>C
NM_001357021.2:c.*461T>C	NP_001343950.1:n.*461T>C
NM_001963.6:c.*318T>C MANE Select	NP_001954.2:n.*318T>C