Canonical Allele Identifier: CA357885002

Gene: EGF

Linked Data

• dbSNP Id: rs1231075699
• gnomAD v2: 4-110902047-G-C
• gnomAD v3: 4-109980891-G-C
• gnomAD v4: 4-109980891-G-C
• MyVariant Identifiers: chr4:g.110902047G>C (hg19) ; chr4:g.109980891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980891G>C , CM000666.2:g.109980891G>C	GRCh38
NC_000004.11:g.110902047G>C , CM000666.1:g.110902047G>C	GRCh37
NC_000004.10:g.111121496G>C	NCBI36
NG_011441.1:g.73008G>C
NG_011441.2:g.73008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2287G>C MANE Select	ENSP00000265171.5:p.Ala763Pro
ENST00000652245.1:c.2161G>C	ENSP00000498337.1:p.Ala721Pro
ENST00000265171.9:c.2287G>C	ENSP00000265171.5:p.Ala763Pro
ENST00000503392.1:c.2287G>C	ENSP00000421384.1:p.Ala763Pro
ENST00000509793.5:c.2161G>C	ENSP00000424316.1:p.Ala721Pro
ENST00000509996.1:n.215G>C
ENST00000511228.5:n.251G>C
NM_001178130.1:c.2287G>C	NP_001171601.1:p.Ala763Pro
NM_001178131.1:c.2161G>C	NP_001171602.1:p.Ala721Pro
NM_001963.4:c.2287G>C	NP_001954.2:p.Ala763Pro
XM_005262796.2:c.2287G>C	XP_005262853.1:p.Ala763Pro
XM_005262797.2:c.2161G>C	XP_005262854.1:p.Ala721Pro
XM_005262798.2:c.2287G>C	XP_005262855.1:p.Ala763Pro
XM_005262800.2:c.2287G>C	XP_005262857.1:p.Ala763Pro
XM_005262801.2:c.2287G>C	XP_005262858.1:p.Ala763Pro
XM_006714124.2:c.2287G>C	XP_006714187.1:p.Ala763Pro
XM_011531707.1:c.2176G>C	XP_011530009.1:p.Ala726Pro
XM_011531708.1:c.2287G>C	XP_011530010.1:p.Ala763Pro
XR_427532.2:n.2740G>C
XR_938699.1:n.2740G>C
NM_001178130.2:c.2287G>C	NP_001171601.1:p.Ala763Pro
NM_001178131.2:c.2161G>C	NP_001171602.1:p.Ala721Pro
NM_001357021.1:c.2161G>C	NP_001343950.1:p.Ala721Pro
NM_001963.5:c.2287G>C	NP_001954.2:p.Ala763Pro
XM_017007845.1:c.2311G>C	XP_016863334.1:p.Ala771Pro
XM_017007846.1:c.2311G>C	XP_016863335.1:p.Ala771Pro
XM_017007847.1:c.2311G>C	XP_016863336.1:p.Ala771Pro
XM_017007848.1:c.2185G>C	XP_016863337.1:p.Ala729Pro
XM_017007849.1:c.2311G>C	XP_016863338.1:p.Ala771Pro
XM_017007850.1:c.2311G>C	XP_016863339.1:p.Ala771Pro
XM_017007851.1:c.2311G>C	XP_016863340.1:p.Ala771Pro
XM_017007853.1:c.2311G>C	XP_016863342.1:p.Ala771Pro
XR_001741156.1:n.2764G>C
XR_001741157.1:n.2764G>C
NM_001178130.3:c.2287G>C	NP_001171601.1:p.Ala763Pro
NM_001178131.3:c.2161G>C	NP_001171602.1:p.Ala721Pro
NM_001357021.2:c.2161G>C	NP_001343950.1:p.Ala721Pro
NM_001963.6:c.2287G>C MANE Select	NP_001954.2:p.Ala763Pro