Canonical Allele Identifier: CA1048013651

Gene:

Linked Data

• dbSNP Id: rs1700426984
• gnomAD v3: 3-53056897-C-G
• gnomAD v4: 3-53056897-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53056897C>G , CM000665.2:g.53056897C>G	GRCh38
NC_000003.11:g.53090913C>G , CM000665.1:g.53090913C>G	GRCh37
NC_000003.10:g.53065953C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9658G>C
ENST00000607283.5:c.465-13643G>C
ENST00000607495.5:c.447+20791G>C