Canonical Allele Identifier: CA410528679
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45997709-G-T
MyVariant Identifiers: chr21:g.47417623G>T (hg19) chr21:g.45997709G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997709G>T , CM000683.2:g.45997709G>T GRCh38
NC_000021.8:g.47417623G>T , CM000683.1:g.47417623G>T GRCh37
NC_000021.7:g.46242051G>T NCBI36
NG_008674.1:g.20961G>T , LRG_475:g.20961G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.246G>T
ENST00000361866.8:c.1471G>T MANE Select ENSP00000355180.3:p.Gly491Ter
ENST00000361866.7:c.1471G>T ENSP00000355180.3:p.Gly491Ter
ENST00000612273.1:c.1471G>T ENSP00000483630.1:p.Gly491Ter
NM_001848.2:c.1471G>T , LRG_475t1:c.1471G>T NP_001839.2:p.Gly491Ter
NM_001848.3:c.1471G>T MANE Select NP_001839.2:p.Gly491Ter
Search 100 bp 5'
Search 100 bp 3'