Canonical Allele Identifier: CA10070036

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 281934
• ClinVar RCV Id: RCV000319412 ; RCV000794729 ; RCV002519102
• dbSNP Id: rs186775751
• ExAC: 21:47410699 T / C
• gnomAD v2: 21-47410699-T-C
• gnomAD v3: 21-45990785-T-C
• gnomAD v4: 21-45990785-T-C
• MyVariant Identifiers: chr21:g.47410699T>C (hg19) ; chr21:g.45990785T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990785T>C , CM000683.2:g.45990785T>C	GRCh38
NC_000021.8:g.47410699T>C , CM000683.1:g.47410699T>C	GRCh37
NC_000021.7:g.46235127T>C	NCBI36
NG_008674.1:g.14037T>C , LRG_475:g.14037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1015T>C MANE Select	ENSP00000355180.3:p.Tyr339His
ENST00000361866.7:c.1015T>C	ENSP00000355180.3:p.Tyr339His
ENST00000612273.1:c.1015T>C	ENSP00000483630.1:p.Tyr339His
NM_001848.2:c.1015T>C , LRG_475t1:c.1015T>C	NP_001839.2:p.Tyr339His
NM_001848.3:c.1015T>C MANE Select	NP_001839.2:p.Tyr339His