Canonical Allele Identifier: CA185200417

Gene:

Linked Data

• dbSNP Id: rs1046613533
• gnomAD v3: 8-122395954-T-G
• gnomAD v4: 8-122395954-T-G
• MyVariant Identifiers: chr8:g.123408193T>G (hg19) ; chr8:g.122395954T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395954T>G , CM000670.2:g.122395954T>G	GRCh38
NC_000008.10:g.123408193T>G , CM000670.1:g.123408193T>G	GRCh37
NC_000008.9:g.123477374T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3218A>C
XR_928599.3:n.152+3218A>C