Canonical Allele Identifier: CA1069320685

Gene:

Linked Data

• dbSNP Id: rs1732905025
• gnomAD v3: 4-148748383-C-T
• gnomAD v4: 4-148748383-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748383C>T , CM000666.2:g.148748383C>T	GRCh38
NC_000004.11:g.149669535C>T , CM000666.1:g.149669535C>T	GRCh37
NC_000004.10:g.149888985C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741441.1:n.1746-118374C>T