Canonical Allele Identifier: CA261869137

Gene:

Linked Data

• dbSNP Id: rs10151037
• gnomAD v2: 14-56418119-G-C
• gnomAD v3: 14-55951401-G-C
• gnomAD v4: 14-55951401-G-C
• MyVariant Identifiers: chr14:g.56418119G>C (hg19) ; chr14:g.55951401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.55951401G>C , CM000676.2:g.55951401G>C	GRCh38
NC_000014.8:g.56418119G>C , CM000676.1:g.56418119G>C	GRCh37
NC_000014.7:g.55487872G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_429364.2:n.164-6561G>C
XR_943897.1:n.164-6561G>C
XR_001750770.1:n.364-6561G>C