Canonical Allele Identifier: CA3044199

Gene: EGF

Linked Data

• dbSNP Id: rs184802575
• ExAC: 4:110925618 T / C
• gnomAD v2: 4-110925618-T-C
• gnomAD v3: 4-110004462-T-C
• gnomAD v4: 4-110004462-T-C
• MyVariant Identifiers: chr4:g.110925618T>C (hg19) ; chr4:g.110004462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004462T>C , CM000666.2:g.110004462T>C	GRCh38
NC_000004.11:g.110925618T>C , CM000666.1:g.110925618T>C	GRCh37
NC_000004.10:g.111145067T>C	NCBI36
NG_011441.1:g.96579T>C
NG_011441.2:g.96579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3174-43T>C MANE Select	ENSP00000265171.5:n.3174-43T>C
ENST00000652245.1:c.2805-43T>C	ENSP00000498337.1:n.2805-43T>C
ENST00000265171.9:c.3174-43T>C	ENSP00000265171.5:n.3174-43T>C
ENST00000503392.1:c.3051-43T>C	ENSP00000421384.1:n.3051-43T>C
ENST00000509793.5:c.3048-43T>C	ENSP00000424316.1:n.3048-43T>C
ENST00000509996.1:n.859-43T>C
ENST00000544918.1:n.216T>C
NM_001178130.1:c.3051-43T>C	NP_001171601.1:n.3051-43T>C
NM_001178131.1:c.3048-43T>C	NP_001171602.1:n.3048-43T>C
NM_001963.4:c.3174-43T>C	NP_001954.2:n.3174-43T>C
XM_005262796.2:c.3174-43T>C	XP_005262853.1:n.3174-43T>C
XM_005262797.2:c.3048-43T>C	XP_005262854.1:n.3048-43T>C
XM_005262798.2:c.2931-43T>C	XP_005262855.1:n.2931-43T>C
XM_005262800.2:c.2931-43T>C	XP_005262857.1:n.2931-43T>C
XM_005262801.2:c.2492-6740T>C	XP_005262858.1:n.2492-6740T>C
XM_006714124.2:c.3174-43T>C	XP_006714187.1:n.3174-43T>C
XM_011531707.1:c.3063-43T>C	XP_011530009.1:n.3063-43T>C
XR_427532.2:n.3188-43T>C
XR_938699.1:n.3188-43T>C
NM_001178130.2:c.3051-43T>C	NP_001171601.1:n.3051-43T>C
NM_001178131.2:c.3048-43T>C	NP_001171602.1:n.3048-43T>C
NM_001357021.1:c.2805-43T>C	NP_001343950.1:n.2805-43T>C
NM_001963.5:c.3174-43T>C	NP_001954.2:n.3174-43T>C
XM_017007845.1:c.3198-43T>C	XP_016863334.1:n.3198-43T>C
XM_017007846.1:c.3198-43T>C	XP_016863335.1:n.3198-43T>C
XM_017007847.1:c.3075-43T>C	XP_016863336.1:n.3075-43T>C
XM_017007848.1:c.3072-43T>C	XP_016863337.1:n.3072-43T>C
XM_017007849.1:c.2955-43T>C	XP_016863338.1:n.2955-43T>C
XM_017007850.1:c.3198-43T>C	XP_016863339.1:n.3198-43T>C
XM_017007851.1:c.2955-43T>C	XP_016863340.1:n.2955-43T>C
XR_001741156.1:n.3212-43T>C
XR_001741157.1:n.3212-43T>C
NM_001178130.3:c.3051-43T>C	NP_001171601.1:n.3051-43T>C
NM_001178131.3:c.3048-43T>C	NP_001171602.1:n.3048-43T>C
NM_001357021.2:c.2805-43T>C	NP_001343950.1:n.2805-43T>C
NM_001963.6:c.3174-43T>C MANE Select	NP_001954.2:n.3174-43T>C