Canonical Allele Identifier: CA1138937632

Gene:

Linked Data

• gnomAD v3: Y-8707902-T-C
• gnomAD v4: Y-8707902-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8707902T>C , CM000686.2:g.8707902T>C	GRCh38
NC_000024.9:g.8575943T>C , CM000686.1:g.8575943T>C	GRCh37
NC_000024.8:g.8635943T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000623558.1:c.139+8870T>C	ENSP00000485446.1:n.139+8870T>C
ENST00000624593.1:c.-57+40814A>G	ENSP00000485106.1:n.-57+40814A>G