Canonical Allele Identifier: CA357874673

Gene: EGF

Linked Data

• gnomAD v4: 4-110004560-G-T
• MyVariant Identifiers: chr4:g.110925716G>T (hg19) ; chr4:g.110004560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004560G>T , CM000666.2:g.110004560G>T	GRCh38
NC_000004.11:g.110925716G>T , CM000666.1:g.110925716G>T	GRCh37
NC_000004.10:g.111145165G>T	NCBI36
NG_011441.1:g.96677G>T
NG_011441.2:g.96677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.3229G>T MANE Select	ENSP00000265171.5:p.Asp1077Tyr
ENST00000652245.1:c.2860G>T	ENSP00000498337.1:p.Asp954Tyr
ENST00000265171.9:c.3229G>T	ENSP00000265171.5:p.Asp1077Tyr
ENST00000503392.1:c.3106G>T	ENSP00000421384.1:p.Asp1036Tyr
ENST00000509793.5:c.3103G>T	ENSP00000424316.1:p.Asp1035Tyr
ENST00000509996.1:n.914G>T
ENST00000537316.5:n.60G>T
ENST00000540840.1:n.60G>T
ENST00000544918.1:n.314G>T
NM_001178130.1:c.3106G>T	NP_001171601.1:p.Asp1036Tyr
NM_001178131.1:c.3103G>T	NP_001171602.1:p.Asp1035Tyr
NM_001963.4:c.3229G>T	NP_001954.2:p.Asp1077Tyr
XM_005262796.2:c.3229G>T	XP_005262853.1:p.Asp1077Tyr
XM_005262797.2:c.3103G>T	XP_005262854.1:p.Asp1035Tyr
XM_005262798.2:c.2986G>T	XP_005262855.1:p.Asp996Tyr
XM_005262800.2:c.2986G>T	XP_005262857.1:p.Asp996Tyr
XM_005262801.2:c.2492-6642G>T	XP_005262858.1:n.2492-6642G>T
XM_006714124.2:c.3229G>T	XP_006714187.1:p.Asp1077Tyr
XM_011531707.1:c.3118G>T	XP_011530009.1:p.Asp1040Tyr
XR_427532.2:n.3243G>T
XR_938699.1:n.3243G>T
NM_001178130.2:c.3106G>T	NP_001171601.1:p.Asp1036Tyr
NM_001178131.2:c.3103G>T	NP_001171602.1:p.Asp1035Tyr
NM_001357021.1:c.2860G>T	NP_001343950.1:p.Asp954Tyr
NM_001963.5:c.3229G>T	NP_001954.2:p.Asp1077Tyr
XM_017007845.1:c.3253G>T	XP_016863334.1:p.Asp1085Tyr
XM_017007846.1:c.3253G>T	XP_016863335.1:p.Asp1085Tyr
XM_017007847.1:c.3130G>T	XP_016863336.1:p.Asp1044Tyr
XM_017007848.1:c.3127G>T	XP_016863337.1:p.Asp1043Tyr
XM_017007849.1:c.3010G>T	XP_016863338.1:p.Asp1004Tyr
XM_017007850.1:c.3253G>T	XP_016863339.1:p.Asp1085Tyr
XM_017007851.1:c.3010G>T	XP_016863340.1:p.Asp1004Tyr
XR_001741156.1:n.3267G>T
XR_001741157.1:n.3267G>T
NM_001178130.3:c.3106G>T	NP_001171601.1:p.Asp1036Tyr
NM_001178131.3:c.3103G>T	NP_001171602.1:p.Asp1035Tyr
NM_001357021.2:c.2860G>T	NP_001343950.1:p.Asp954Tyr
NM_001963.6:c.3229G>T MANE Select	NP_001954.2:p.Asp1077Tyr