Canonical Allele Identifier: CA8966992

Gene: DCC

Linked Data

• dbSNP Id: rs764767977
• ExAC: 18:50734148 G / A
• gnomAD v2: 18-50734148-G-A
• gnomAD v3: 18-53207778-G-A
• gnomAD v4: 18-53207778-G-A
• MyVariant Identifiers: chr18:g.50734148G>A (hg19) ; chr18:g.53207778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53207778G>A , CM000680.2:g.53207778G>A	GRCh38
NC_000018.9:g.50734148G>A , CM000680.1:g.50734148G>A	GRCh37
NC_000018.8:g.48988146G>A	NCBI36
NG_013341.1:g.872607G>A
NG_013341.2:g.872607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.1822G>A MANE Select	ENSP00000389140.2:p.Val608Ile
ENST00000304775.12:c.1623G>A
ENST00000412726.5:c.1753G>A	ENSP00000397322.2:p.Val585Ile
ENST00000442544.6:c.1822G>A	ENSP00000389140.2:p.Val608Ile
ENST00000581580.5:c.787G>A	ENSP00000464582.1:p.Val263Ile
NM_005215.3:c.1822G>A	NP_005206.2:p.Val608Ile
XM_011525843.1:c.1822G>A	XP_011524145.1:p.Val608Ile
XM_011525844.1:c.787G>A	XP_011524146.1:p.Val263Ile
XM_011525845.1:c.1822G>A	XP_011524147.1:p.Val608Ile
XM_011525846.1:c.1822G>A	XP_011524148.1:p.Val608Ile
XM_011525844.2:c.787G>A	XP_011524146.1:p.Val263Ile
XM_017025568.1:c.1822G>A	XP_016881057.1:p.Val608Ile
XM_017025569.1:c.1822G>A	XP_016881058.1:p.Val608Ile
XM_017025570.1:c.787G>A	XP_016881059.1:p.Val263Ile
NM_005215.4:c.1822G>A MANE Select	NP_005206.2:p.Val608Ile