Canonical Allele Identifier: CA241921

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 195477
• ClinVar RCV Id: RCV000723484 ; RCV001081300
• dbSNP Id: rs144887329
• ExAC: 21:47414095 G / A
• gnomAD v2: 21-47414095-G-A
• gnomAD v3: 21-45994181-G-A
• gnomAD v4: 21-45994181-G-A
• MyVariant Identifiers: chr21:g.47414095G>A (hg19) ; chr21:g.45994181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45994181G>A , CM000683.2:g.45994181G>A	GRCh38
NC_000021.8:g.47414095G>A , CM000683.1:g.47414095G>A	GRCh37
NC_000021.7:g.46238523G>A	NCBI36
NG_008674.1:g.17433G>A , LRG_475:g.17433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683550.1:n.125G>A
ENST00000361866.8:c.1350G>A MANE Select	ENSP00000355180.3:p.Pro450=
ENST00000361866.7:c.1350G>A	ENSP00000355180.3:p.Pro450=
ENST00000612273.1:c.1350G>A	ENSP00000483630.1:p.Pro450=
NM_001848.2:c.1350G>A , LRG_475t1:c.1350G>A	NP_001839.2:p.Pro450=
NM_001848.3:c.1350G>A MANE Select	NP_001839.2:p.Pro450=