Canonical Allele Identifier: CA942309835

Gene:

Linked Data

• dbSNP Id: rs1866697972
• gnomAD v3: 11-112164797-G-T
• gnomAD v4: 11-112164797-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164797G>T , CM000673.2:g.112164797G>T	GRCh38
NC_000011.9:g.112035520G>T , CM000673.1:g.112035520G>T	GRCh37
NC_000011.8:g.111540730G>T	NCBI36
NG_028143.1:g.4321C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5622G>T
ENST00000531744.5:c.315-5622G>T	ENSP00000456957.1:n.315-5622G>T
ENST00000532699.1:c.315-5622G>T	ENSP00000456434.1:n.315-5622G>T