Canonical Allele Identifier: CA638497632
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077724253
gnomAD v2: 21-47404146-C-T
gnomAD v3: 21-45984232-C-T
gnomAD v4: 21-45984232-C-T
MyVariant Identifiers: chr21:g.47404146_47404157delinsTCGCCCGCCTCA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984232C>T , CM000683.2:g.45984232C>T GRCh38
NC_000021.8:g.47404146C>T , CM000683.1:g.47404146C>T GRCh37
NC_000021.7:g.46228574C>T NCBI36
NG_008674.1:g.7484C>T , LRG_475:g.7484C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.228-37C>T MANE Select ENSP00000355180.3:n.228-37C>T
ENST00000361866.7:c.228-37C>T ENSP00000355180.3:n.228-37C>T
ENST00000612273.1:c.228-37C>T ENSP00000483630.1:n.228-37C>T
NM_001848.2:c.228-37C>T , LRG_475t1:c.228-37C>T NP_001839.2:n.228-37C>T
NM_001848.3:c.228-37C>T MANE Select NP_001839.2:n.228-37C>T
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