Canonical Allele Identifier: CA10069953

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 863496
• ClinVar RCV Id: RCV001070476
• dbSNP Id: rs11701912
• ExAC: 21:47410328 G / A
• gnomAD v2: 21-47410328-G-A
• gnomAD v3: 21-45990414-G-A
• gnomAD v4: 21-45990414-G-A
• MyVariant Identifiers: chr21:g.47410328G>A (hg19) ; chr21:g.45990414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990414G>A , CM000683.2:g.45990414G>A	GRCh38
NC_000021.8:g.47410328G>A , CM000683.1:g.47410328G>A	GRCh37
NC_000021.7:g.46234756G>A	NCBI36
NG_008674.1:g.13666G>A , LRG_475:g.13666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.994G>A MANE Select	ENSP00000355180.3:p.Gly332Ser
ENST00000361866.7:c.994G>A	ENSP00000355180.3:p.Gly332Ser
ENST00000612273.1:c.994G>A	ENSP00000483630.1:p.Gly332Ser
NM_001848.2:c.994G>A , LRG_475t1:c.994G>A	NP_001839.2:p.Gly332Ser
NM_001848.3:c.994G>A MANE Select	NP_001839.2:p.Gly332Ser