Canonical Allele Identifier: CA1048013711

Gene:

Linked Data

• dbSNP Id: rs1700428722
• gnomAD v3: 3-53057095-C-T
• gnomAD v4: 3-53057095-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057095C>T , CM000665.2:g.53057095C>T	GRCh38
NC_000003.11:g.53091111C>T , CM000665.1:g.53091111C>T	GRCh37
NC_000003.10:g.53066151C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9856G>A
ENST00000607283.5:c.465-13841G>A
ENST00000607495.5:c.447+20593G>A