Canonical Allele Identifier: CA402518290

Gene: DCC

Linked Data

• dbSNP Id: rs1484936289
• gnomAD v2: 18-50734164-T-C
• gnomAD v3: 18-53207794-T-C
• gnomAD v4: 18-53207794-T-C
• MyVariant Identifiers: chr18:g.50734164T>C (hg19) ; chr18:g.53207794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53207794T>C , CM000680.2:g.53207794T>C	GRCh38
NC_000018.9:g.50734164T>C , CM000680.1:g.50734164T>C	GRCh37
NC_000018.8:g.48988162T>C	NCBI36
NG_013341.1:g.872623T>C
NG_013341.2:g.872623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.1838T>C MANE Select	ENSP00000389140.2:p.Ile613Thr
ENST00000304775.12:c.1639T>C
ENST00000412726.5:c.1769T>C	ENSP00000397322.2:p.Ile590Thr
ENST00000442544.6:c.1838T>C	ENSP00000389140.2:p.Ile613Thr
ENST00000581580.5:c.803T>C	ENSP00000464582.1:p.Ile268Thr
NM_005215.3:c.1838T>C	NP_005206.2:p.Ile613Thr
XM_011525843.1:c.1838T>C	XP_011524145.1:p.Ile613Thr
XM_011525844.1:c.803T>C	XP_011524146.1:p.Ile268Thr
XM_011525845.1:c.1838T>C	XP_011524147.1:p.Ile613Thr
XM_011525846.1:c.1838T>C	XP_011524148.1:p.Ile613Thr
XM_011525844.2:c.803T>C	XP_011524146.1:p.Ile268Thr
XM_017025568.1:c.1838T>C	XP_016881057.1:p.Ile613Thr
XM_017025569.1:c.1838T>C	XP_016881058.1:p.Ile613Thr
XM_017025570.1:c.803T>C	XP_016881059.1:p.Ile268Thr
NM_005215.4:c.1838T>C MANE Select	NP_005206.2:p.Ile613Thr