Canonical Allele Identifier: CA146023742

Gene:

Linked Data

• dbSNP Id: rs908383535
• gnomAD v2: 6-117771380-T-C
• gnomAD v3: 6-117450217-T-C
• gnomAD v4: 6-117450217-T-C
• MyVariant Identifiers: chr6:g.117771380T>C (hg19) ; chr6:g.117450217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450217T>C , CM000668.2:g.117450217T>C	GRCh38
NC_000006.11:g.117771380T>C , CM000668.1:g.117771380T>C	GRCh37
NC_000006.10:g.117878073T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467125.1:c.547+116637A>G	ENSP00000487717.1:n.547+116637A>G