Canonical Allele Identifier: CA555820464

Gene:

Linked Data

• dbSNP Id: rs909137456
• gnomAD v2: 4-154864773-C-T
• gnomAD v3: 4-153943621-C-T
• gnomAD v4: 4-153943621-C-T
• MyVariant Identifiers: chr4:g.154864773C>T (hg19) ; chr4:g.153943621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.153943621C>T , CM000666.2:g.153943621C>T	GRCh38
NC_000004.11:g.154864773C>T , CM000666.1:g.154864773C>T	GRCh37
NC_000004.10:g.155084223C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741892.1:n.1348-5200C>T