Canonical Allele Identifier: CA1040809054

Gene:

Linked Data

• dbSNP Id: rs1688119207
• gnomAD v3: 2-195006978-G-T
• gnomAD v4: 2-195006978-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006978G>T , CM000664.2:g.195006978G>T	GRCh38
NC_000002.11:g.195871702G>T , CM000664.1:g.195871702G>T	GRCh37
NC_000002.10:g.195579947G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739836.1:n.553+52457C>A