Canonical Allele Identifier: CA10070642
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2050973
ClinVar RCV Id: RCV002904708
dbSNP Id: rs764670520
ExAC: 21:47421186 C / T
gnomAD v2: 21-47421186-C-T
gnomAD v3: 21-46001272-C-T
gnomAD v4: 21-46001272-C-T
MyVariant Identifiers: chr21:g.47421186C>T (hg19) chr21:g.46001272C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001272C>T , CM000683.2:g.46001272C>T GRCh38
NC_000021.8:g.47421186C>T , CM000683.1:g.47421186C>T GRCh37
NC_000021.7:g.46245614C>T NCBI36
NG_008674.1:g.24524C>T , LRG_475:g.24524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.241C>T
ENST00000361866.8:c.1842C>T MANE Select ENSP00000355180.3:p.Ile614=
ENST00000361866.7:c.1842C>T ENSP00000355180.3:p.Ile614=
ENST00000463060.5:n.241C>T
ENST00000498614.5:n.76C>T
ENST00000612273.1:c.1836C>T ENSP00000483630.1:p.Ile612=
NM_001848.2:c.1842C>T , LRG_475t1:c.1842C>T NP_001839.2:p.Ile614=
NM_001848.3:c.1842C>T MANE Select NP_001839.2:p.Ile614=
Search 100 bp 5'
Search 100 bp 3'