Canonical Allele Identifier: CA146023708

Gene:

Linked Data

• dbSNP Id: rs960738874
• gnomAD v3: 6-117450199-T-C
• gnomAD v4: 6-117450199-T-C
• MyVariant Identifiers: chr6:g.117771362T>C (hg19) ; chr6:g.117450199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450199T>C , CM000668.2:g.117450199T>C	GRCh38
NC_000006.11:g.117771362T>C , CM000668.1:g.117771362T>C	GRCh37
NC_000006.10:g.117878055T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467125.1:c.547+116655A>G	ENSP00000487717.1:n.547+116655A>G