Canonical Allele Identifier: CA357884975

Gene: EGF

Linked Data

• dbSNP Id: rs200092663
• gnomAD v2: 4-110902034-G-C
• gnomAD v4: 4-109980878-G-C
• MyVariant Identifiers: chr4:g.110902034G>C (hg19) ; chr4:g.109980878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980878G>C , CM000666.2:g.109980878G>C	GRCh38
NC_000004.11:g.110902034G>C , CM000666.1:g.110902034G>C	GRCh37
NC_000004.10:g.111121483G>C	NCBI36
NG_011441.1:g.72995G>C
NG_011441.2:g.72995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2274G>C MANE Select	ENSP00000265171.5:p.Lys758Asn
ENST00000652245.1:c.2148G>C	ENSP00000498337.1:p.Lys716Asn
ENST00000265171.9:c.2274G>C	ENSP00000265171.5:p.Lys758Asn
ENST00000503392.1:c.2274G>C	ENSP00000421384.1:p.Lys758Asn
ENST00000509793.5:c.2148G>C	ENSP00000424316.1:p.Lys716Asn
ENST00000509996.1:n.202G>C
ENST00000511228.5:n.238G>C
NM_001178130.1:c.2274G>C	NP_001171601.1:p.Lys758Asn
NM_001178131.1:c.2148G>C	NP_001171602.1:p.Lys716Asn
NM_001963.4:c.2274G>C	NP_001954.2:p.Lys758Asn
XM_005262796.2:c.2274G>C	XP_005262853.1:p.Lys758Asn
XM_005262797.2:c.2148G>C	XP_005262854.1:p.Lys716Asn
XM_005262798.2:c.2274G>C	XP_005262855.1:p.Lys758Asn
XM_005262800.2:c.2274G>C	XP_005262857.1:p.Lys758Asn
XM_005262801.2:c.2274G>C	XP_005262858.1:p.Lys758Asn
XM_006714124.2:c.2274G>C	XP_006714187.1:p.Lys758Asn
XM_011531707.1:c.2163G>C	XP_011530009.1:p.Lys721Asn
XM_011531708.1:c.2274G>C	XP_011530010.1:p.Lys758Asn
XR_427532.2:n.2727G>C
XR_938699.1:n.2727G>C
NM_001178130.2:c.2274G>C	NP_001171601.1:p.Lys758Asn
NM_001178131.2:c.2148G>C	NP_001171602.1:p.Lys716Asn
NM_001357021.1:c.2148G>C	NP_001343950.1:p.Lys716Asn
NM_001963.5:c.2274G>C	NP_001954.2:p.Lys758Asn
XM_017007845.1:c.2298G>C	XP_016863334.1:p.Lys766Asn
XM_017007846.1:c.2298G>C	XP_016863335.1:p.Lys766Asn
XM_017007847.1:c.2298G>C	XP_016863336.1:p.Lys766Asn
XM_017007848.1:c.2172G>C	XP_016863337.1:p.Lys724Asn
XM_017007849.1:c.2298G>C	XP_016863338.1:p.Lys766Asn
XM_017007850.1:c.2298G>C	XP_016863339.1:p.Lys766Asn
XM_017007851.1:c.2298G>C	XP_016863340.1:p.Lys766Asn
XM_017007853.1:c.2298G>C	XP_016863342.1:p.Lys766Asn
XR_001741156.1:n.2751G>C
XR_001741157.1:n.2751G>C
NM_001178130.3:c.2274G>C	NP_001171601.1:p.Lys758Asn
NM_001178131.3:c.2148G>C	NP_001171602.1:p.Lys716Asn
NM_001357021.2:c.2148G>C	NP_001343950.1:p.Lys716Asn
NM_001963.6:c.2274G>C MANE Select	NP_001954.2:p.Lys758Asn