Canonical Allele Identifier: CA2639246556

Gene:

Linked Data

• gnomAD v4: 17-63498413-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498413G>T , CM000679.2:g.63498413G>T	GRCh38
NC_000017.10:g.61575774G>T , CM000679.1:g.61575774G>T	GRCh37
NC_000017.9:g.58929506G>T	NCBI36
NG_011648.1:g.26341G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1969+1428G>T	ENSP00000464149.1:n.1969+1428G>T