Canonical Allele Identifier: CA10070666
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2901613
ClinVar RCV Id: RCV003632654
dbSNP Id: rs373915808
ExAC: 21:47421311 G / A
gnomAD v2: 21-47421311-G-A
gnomAD v3: 21-46001397-G-A
gnomAD v4: 21-46001397-G-A
MyVariant Identifiers: chr21:g.47421311G>A (hg19) chr21:g.46001397G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001397G>A , CM000683.2:g.46001397G>A GRCh38
NC_000021.8:g.47421311G>A , CM000683.1:g.47421311G>A GRCh37
NC_000021.7:g.46245739G>A NCBI36
NG_008674.1:g.24649G>A , LRG_475:g.24649G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.355+11G>A
ENST00000612273.2:c.82+11G>A
ENST00000682634.1:c.82+11G>A
ENST00000361866.8:c.1956+11G>A MANE Select ENSP00000355180.3:n.1956+11G>A
ENST00000361866.7:c.1956+11G>A ENSP00000355180.3:n.1956+11G>A
ENST00000463060.5:n.355+11G>A
ENST00000498614.5:n.190+11G>A
ENST00000612273.1:c.1950+11G>A ENSP00000483630.1:n.1950+11G>A
NM_001848.2:c.1956+11G>A , LRG_475t1:c.1956+11G>A NP_001839.2:n.1956+11G>A
NM_001848.3:c.1956+11G>A MANE Select NP_001839.2:n.1956+11G>A
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