Canonical Allele Identifier: CA215981

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 56905
• ClinVar RCV Id: RCV000050243 ; RCV000360603 ; RCV001083967 ; RCV000723507
• dbSNP Id: rs138899581
• ExAC: 21:47404305 T / C
• gnomAD v2: 21-47404305-T-C
• gnomAD v3: 21-45984391-T-C
• gnomAD v4: 21-45984391-T-C
• MyVariant Identifiers: chr21:g.47404305T>C (hg19) ; chr21:g.45984391T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984391T>C , CM000683.2:g.45984391T>C	GRCh38
NC_000021.8:g.47404305T>C , CM000683.1:g.47404305T>C	GRCh37
NC_000021.7:g.46228733T>C	NCBI36
NG_008674.1:g.7643T>C , LRG_475:g.7643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.350T>C MANE Select	ENSP00000355180.3:p.Val117Ala
ENST00000361866.7:c.350T>C	ENSP00000355180.3:p.Val117Ala
ENST00000612273.1:c.350T>C	ENSP00000483630.1:p.Val117Ala
NM_001848.2:c.350T>C , LRG_475t1:c.350T>C	NP_001839.2:p.Val117Ala
NM_001848.3:c.350T>C MANE Select	NP_001839.2:p.Val117Ala