Canonical Allele Identifier: CA1086017940

Gene:

Linked Data

• dbSNP Id: rs1766138774
• gnomAD v3: 6-11943311-G-T
• gnomAD v4: 6-11943311-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943311G>T , CM000668.2:g.11943311G>T	GRCh38
NC_000006.11:g.11943544G>T , CM000668.1:g.11943544G>T	GRCh37
NC_000006.10:g.12051530G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-8224G>T