Canonical Allele Identifier: CA817769243

Gene:

Linked Data

• dbSNP Id: rs1227880830
• MyVariant Identifiers: chr6:g.117771400C>A (hg19) ; chr6:g.117450237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450237C>A , CM000668.2:g.117450237C>A	GRCh38
NC_000006.11:g.117771400C>A , CM000668.1:g.117771400C>A	GRCh37
NC_000006.10:g.117878093C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467125.1:c.547+116617G>T	ENSP00000487717.1:n.547+116617G>T