Canonical Allele Identifier: CA638178958

Gene: COL6A1

Linked Data

• dbSNP Id: rs1419770054
• gnomAD v2: 21-47410486-A-C
• gnomAD v3: 21-45990572-A-C
• gnomAD v4: 21-45990572-A-C
• MyVariant Identifiers: chr21:g.47410486A>C (hg19) ; chr21:g.45990572A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990572A>C , CM000683.2:g.45990572A>C	GRCh38
NC_000021.8:g.47410486A>C , CM000683.1:g.47410486A>C	GRCh37
NC_000021.7:g.46234914A>C	NCBI36
NG_008674.1:g.13824A>C , LRG_475:g.13824A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+150A>C MANE Select	ENSP00000355180.3:n.1002+150A>C
ENST00000361866.7:c.1002+150A>C	ENSP00000355180.3:n.1002+150A>C
ENST00000612273.1:c.1002+150A>C	ENSP00000483630.1:n.1002+150A>C
NM_001848.2:c.1002+150A>C , LRG_475t1:c.1002+150A>C	NP_001839.2:n.1002+150A>C
NM_001848.3:c.1002+150A>C MANE Select	NP_001839.2:n.1002+150A>C