Canonical Allele Identifier: CA785255455

Gene: EGF

Linked Data

• dbSNP Id: rs1207679522
• gnomAD v3: 4-110011695-C-T
• gnomAD v4: 4-110011695-C-T
• MyVariant Identifiers: chr4:g.110932851C>T (hg19) ; chr4:g.110011695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110011695C>T , CM000666.2:g.110011695C>T	GRCh38
NC_000004.11:g.110932851C>T , CM000666.1:g.110932851C>T	GRCh37
NC_000004.10:g.111152300C>T	NCBI36
NG_011441.1:g.103812C>T
NG_011441.2:g.103812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.*240C>T MANE Select	ENSP00000265171.5:n.*240C>T
ENST00000652245.1:c.*383C>T	ENSP00000498337.1:n.*383C>T
ENST00000265171.9:c.*240C>T	ENSP00000265171.5:n.*240C>T
ENST00000509793.5:c.*240C>T	ENSP00000424316.1:n.*240C>T
ENST00000540840.1:n.229+387C>T
NM_001178130.1:c.*240C>T	NP_001171601.1:n.*240C>T
NM_001178131.1:c.*240C>T	NP_001171602.1:n.*240C>T
NM_001963.4:c.*240C>T	NP_001954.2:n.*240C>T
XM_005262796.2:c.*240C>T	XP_005262853.1:n.*240C>T
XM_005262797.2:c.*240C>T	XP_005262854.1:n.*240C>T
XM_005262798.2:c.*240C>T	XP_005262855.1:n.*240C>T
XM_005262800.2:c.*383C>T	XP_005262857.1:n.*383C>T
XM_005262801.2:c.*240C>T	XP_005262858.1:n.*240C>T
XM_006714124.2:c.*383C>T	XP_006714187.1:n.*383C>T
XM_011531707.1:c.*240C>T	XP_011530009.1:n.*240C>T
NM_001178130.2:c.*240C>T	NP_001171601.1:n.*240C>T
NM_001178131.2:c.*240C>T	NP_001171602.1:n.*240C>T
NM_001357021.1:c.*383C>T	NP_001343950.1:n.*383C>T
NM_001963.5:c.*240C>T	NP_001954.2:n.*240C>T
XM_017007845.1:c.*240C>T	XP_016863334.1:n.*240C>T
XM_017007846.1:c.*240C>T	XP_016863335.1:n.*240C>T
XM_017007847.1:c.*240C>T	XP_016863336.1:n.*240C>T
XM_017007848.1:c.*240C>T	XP_016863337.1:n.*240C>T
XM_017007849.1:c.*240C>T	XP_016863338.1:n.*240C>T
XM_017007850.1:c.*383C>T	XP_016863339.1:n.*383C>T
XM_017007851.1:c.*383C>T	XP_016863340.1:n.*383C>T
NM_001178130.3:c.*240C>T	NP_001171601.1:n.*240C>T
NM_001178131.3:c.*240C>T	NP_001171602.1:n.*240C>T
NM_001357021.2:c.*383C>T	NP_001343950.1:n.*383C>T
NM_001963.6:c.*240C>T MANE Select	NP_001954.2:n.*240C>T