Canonical Allele Identifier: CA3043936

Gene: EGF

Linked Data

• ClinVar Variation Id: 901215
• ClinVar RCV Id: RCV001146953 ; RCV002070784 ; RCV003906263
• dbSNP Id: rs368323208
• ExAC: 4:110902097 G / A
• gnomAD v2: 4-110902097-G-A
• gnomAD v3: 4-109980941-G-A
• gnomAD v4: 4-109980941-G-A
• MyVariant Identifiers: chr4:g.110902097G>A (hg19) ; chr4:g.109980941G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980941G>A , CM000666.2:g.109980941G>A	GRCh38
NC_000004.11:g.110902097G>A , CM000666.1:g.110902097G>A	GRCh37
NC_000004.10:g.111121546G>A	NCBI36
NG_011441.1:g.73058G>A
NG_011441.2:g.73058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2337G>A MANE Select	ENSP00000265171.5:p.Thr779=
ENST00000652245.1:c.2211G>A	ENSP00000498337.1:p.Thr737=
ENST00000265171.9:c.2337G>A	ENSP00000265171.5:p.Thr779=
ENST00000503392.1:c.2337G>A	ENSP00000421384.1:p.Thr779=
ENST00000509793.5:c.2211G>A	ENSP00000424316.1:p.Thr737=
ENST00000509996.1:n.265G>A
ENST00000511228.5:n.301G>A
NM_001178130.1:c.2337G>A	NP_001171601.1:p.Thr779=
NM_001178131.1:c.2211G>A	NP_001171602.1:p.Thr737=
NM_001963.4:c.2337G>A	NP_001954.2:p.Thr779=
XM_005262796.2:c.2337G>A	XP_005262853.1:p.Thr779=
XM_005262797.2:c.2211G>A	XP_005262854.1:p.Thr737=
XM_005262798.2:c.2337G>A	XP_005262855.1:p.Thr779=
XM_005262800.2:c.2337G>A	XP_005262857.1:p.Thr779=
XM_005262801.2:c.2337G>A	XP_005262858.1:p.Thr779=
XM_006714124.2:c.2337G>A	XP_006714187.1:p.Thr779=
XM_011531707.1:c.2226G>A	XP_011530009.1:p.Thr742=
XM_011531708.1:c.2337G>A	XP_011530010.1:p.Thr779=
XR_427532.2:n.2790G>A
XR_938699.1:n.2790G>A
NM_001178130.2:c.2337G>A	NP_001171601.1:p.Thr779=
NM_001178131.2:c.2211G>A	NP_001171602.1:p.Thr737=
NM_001357021.1:c.2211G>A	NP_001343950.1:p.Thr737=
NM_001963.5:c.2337G>A	NP_001954.2:p.Thr779=
XM_017007845.1:c.2361G>A	XP_016863334.1:p.Thr787=
XM_017007846.1:c.2361G>A	XP_016863335.1:p.Thr787=
XM_017007847.1:c.2361G>A	XP_016863336.1:p.Thr787=
XM_017007848.1:c.2235G>A	XP_016863337.1:p.Thr745=
XM_017007849.1:c.2361G>A	XP_016863338.1:p.Thr787=
XM_017007850.1:c.2361G>A	XP_016863339.1:p.Thr787=
XM_017007851.1:c.2361G>A	XP_016863340.1:p.Thr787=
XM_017007853.1:c.2361G>A	XP_016863342.1:p.Thr787=
XR_001741156.1:n.2814G>A
XR_001741157.1:n.2814G>A
NM_001178130.3:c.2337G>A	NP_001171601.1:p.Thr779=
NM_001178131.3:c.2211G>A	NP_001171602.1:p.Thr737=
NM_001357021.2:c.2211G>A	NP_001343950.1:p.Thr737=
NM_001963.6:c.2337G>A MANE Select	NP_001954.2:p.Thr779=