Canonical Allele Identifier: CA3043921

Gene: EGF

Linked Data

• dbSNP Id: rs758414654
• ExAC: 4:110902012 G / C
• gnomAD v2: 4-110902012-G-C
• gnomAD v3: 4-109980856-G-C
• gnomAD v4: 4-109980856-G-C
• MyVariant Identifiers: chr4:g.110902012G>C (hg19) ; chr4:g.109980856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980856G>C , CM000666.2:g.109980856G>C	GRCh38
NC_000004.11:g.110902012G>C , CM000666.1:g.110902012G>C	GRCh37
NC_000004.10:g.111121461G>C	NCBI36
NG_011441.1:g.72973G>C
NG_011441.2:g.72973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2252G>C MANE Select	ENSP00000265171.5:p.Gly751Ala
ENST00000652245.1:c.2126G>C	ENSP00000498337.1:p.Gly709Ala
ENST00000265171.9:c.2252G>C	ENSP00000265171.5:p.Gly751Ala
ENST00000503392.1:c.2252G>C	ENSP00000421384.1:p.Gly751Ala
ENST00000509793.5:c.2126G>C	ENSP00000424316.1:p.Gly709Ala
ENST00000509996.1:n.180G>C
ENST00000511228.5:n.216G>C
NM_001178130.1:c.2252G>C	NP_001171601.1:p.Gly751Ala
NM_001178131.1:c.2126G>C	NP_001171602.1:p.Gly709Ala
NM_001963.4:c.2252G>C	NP_001954.2:p.Gly751Ala
XM_005262796.2:c.2252G>C	XP_005262853.1:p.Gly751Ala
XM_005262797.2:c.2126G>C	XP_005262854.1:p.Gly709Ala
XM_005262798.2:c.2252G>C	XP_005262855.1:p.Gly751Ala
XM_005262800.2:c.2252G>C	XP_005262857.1:p.Gly751Ala
XM_005262801.2:c.2252G>C	XP_005262858.1:p.Gly751Ala
XM_006714124.2:c.2252G>C	XP_006714187.1:p.Gly751Ala
XM_011531707.1:c.2141G>C	XP_011530009.1:p.Gly714Ala
XM_011531708.1:c.2252G>C	XP_011530010.1:p.Gly751Ala
XR_427532.2:n.2705G>C
XR_938699.1:n.2705G>C
NM_001178130.2:c.2252G>C	NP_001171601.1:p.Gly751Ala
NM_001178131.2:c.2126G>C	NP_001171602.1:p.Gly709Ala
NM_001357021.1:c.2126G>C	NP_001343950.1:p.Gly709Ala
NM_001963.5:c.2252G>C	NP_001954.2:p.Gly751Ala
XM_017007845.1:c.2276G>C	XP_016863334.1:p.Gly759Ala
XM_017007846.1:c.2276G>C	XP_016863335.1:p.Gly759Ala
XM_017007847.1:c.2276G>C	XP_016863336.1:p.Gly759Ala
XM_017007848.1:c.2150G>C	XP_016863337.1:p.Gly717Ala
XM_017007849.1:c.2276G>C	XP_016863338.1:p.Gly759Ala
XM_017007850.1:c.2276G>C	XP_016863339.1:p.Gly759Ala
XM_017007851.1:c.2276G>C	XP_016863340.1:p.Gly759Ala
XM_017007853.1:c.2276G>C	XP_016863342.1:p.Gly759Ala
XR_001741156.1:n.2729G>C
XR_001741157.1:n.2729G>C
NM_001178130.3:c.2252G>C	NP_001171601.1:p.Gly751Ala
NM_001178131.3:c.2126G>C	NP_001171602.1:p.Gly709Ala
NM_001357021.2:c.2126G>C	NP_001343950.1:p.Gly709Ala
NM_001963.6:c.2252G>C MANE Select	NP_001954.2:p.Gly751Ala