Canonical Allele Identifier: CA638183022
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1914301
ClinVar RCV Id: RCV002590365
dbSNP Id: rs755009917
gnomAD v2: 21-47421316-G-T
gnomAD v4: 21-46001402-G-T
MyVariant Identifiers: chr21:g.47421316G>T (hg19) chr21:g.46001402G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001402G>T , CM000683.2:g.46001402G>T GRCh38
NC_000021.8:g.47421316G>T , CM000683.1:g.47421316G>T GRCh37
NC_000021.7:g.46245744G>T NCBI36
NG_008674.1:g.24654G>T , LRG_475:g.24654G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.355+16G>T
ENST00000612273.2:c.82+16G>T
ENST00000682634.1:c.82+16G>T
ENST00000361866.8:c.1956+16G>T MANE Select ENSP00000355180.3:n.1956+16G>T
ENST00000361866.7:c.1956+16G>T ENSP00000355180.3:n.1956+16G>T
ENST00000463060.5:n.355+16G>T
ENST00000498614.5:n.190+16G>T
ENST00000612273.1:c.1950+16G>T ENSP00000483630.1:n.1950+16G>T
NM_001848.2:c.1956+16G>T , LRG_475t1:c.1956+16G>T NP_001839.2:n.1956+16G>T
NM_001848.3:c.1956+16G>T MANE Select NP_001839.2:n.1956+16G>T
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