Canonical Allele Identifier: CA10070031

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 498190
• ClinVar RCV Id: RCV000593563 ; RCV001088357
• dbSNP Id: rs182440627
• ExAC: 21:47410677 C / T
• gnomAD v2: 21-47410677-C-T
• gnomAD v3: 21-45990763-C-T
• gnomAD v4: 21-45990763-C-T
• MyVariant Identifiers: chr21:g.47410677C>T (hg19) ; chr21:g.45990763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990763C>T , CM000683.2:g.45990763C>T	GRCh38
NC_000021.8:g.47410677C>T , CM000683.1:g.47410677C>T	GRCh37
NC_000021.7:g.46235105C>T	NCBI36
NG_008674.1:g.14015C>T , LRG_475:g.14015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-10C>T MANE Select	ENSP00000355180.3:n.1003-10C>T
ENST00000361866.7:c.1003-10C>T	ENSP00000355180.3:n.1003-10C>T
ENST00000612273.1:c.1003-10C>T	ENSP00000483630.1:n.1003-10C>T
NM_001848.2:c.1003-10C>T , LRG_475t1:c.1003-10C>T	NP_001839.2:n.1003-10C>T
NM_001848.3:c.1003-10C>T MANE Select	NP_001839.2:n.1003-10C>T