Canonical Allele Identifier: CA410515971
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1189584102
gnomAD v2: 21-47404262-C-T
gnomAD v4: 21-45984348-C-T
MyVariant Identifiers: chr21:g.47404262C>T (hg19) chr21:g.45984348C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984348C>T , CM000683.2:g.45984348C>T GRCh38
NC_000021.8:g.47404262C>T , CM000683.1:g.47404262C>T GRCh37
NC_000021.7:g.46228690C>T NCBI36
NG_008674.1:g.7600C>T , LRG_475:g.7600C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.307C>T MANE Select ENSP00000355180.3:p.Leu103Phe
ENST00000361866.7:c.307C>T ENSP00000355180.3:p.Leu103Phe
ENST00000612273.1:c.307C>T ENSP00000483630.1:p.Leu103Phe
NM_001848.2:c.307C>T , LRG_475t1:c.307C>T NP_001839.2:p.Leu103Phe
NM_001848.3:c.307C>T MANE Select NP_001839.2:p.Leu103Phe
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