Canonical Allele Identifier: CA1138937642

Gene:

Linked Data

• gnomAD v3: Y-8707903-C-T
• gnomAD v4: Y-8707903-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8707903C>T , CM000686.2:g.8707903C>T	GRCh38
NC_000024.9:g.8575944C>T , CM000686.1:g.8575944C>T	GRCh37
NC_000024.8:g.8635944C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000623558.1:c.139+8871C>T	ENSP00000485446.1:n.139+8871C>T
ENST00000624593.1:c.-57+40813G>A	ENSP00000485106.1:n.-57+40813G>A