Canonical Allele Identifier: CA243240

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 196329
• ClinVar RCV Id: RCV000177134 ; RCV000366297 ; RCV000546667 ; RCV001311578
• dbSNP Id: rs138646508
• ExAC: 21:47404279 C / T
• gnomAD v2: 21-47404279-C-T
• gnomAD v3: 21-45984365-C-T
• gnomAD v4: 21-45984365-C-T
• MyVariant Identifiers: chr21:g.47404279C>T (hg19) ; chr21:g.45984365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984365C>T , CM000683.2:g.45984365C>T	GRCh38
NC_000021.8:g.47404279C>T , CM000683.1:g.47404279C>T	GRCh37
NC_000021.7:g.46228707C>T	NCBI36
NG_008674.1:g.7617C>T , LRG_475:g.7617C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.324C>T MANE Select	ENSP00000355180.3:p.Gly108=
ENST00000361866.7:c.324C>T	ENSP00000355180.3:p.Gly108=
ENST00000612273.1:c.324C>T	ENSP00000483630.1:p.Gly108=
NM_001848.2:c.324C>T , LRG_475t1:c.324C>T	NP_001839.2:p.Gly108=
NM_001848.3:c.324C>T MANE Select	NP_001839.2:p.Gly108=