Canonical Allele Identifier: CA228571736

Gene:

Linked Data

• dbSNP Id: rs5744225
• gnomAD v2: 11-112035434-C-T
• gnomAD v3: 11-112164711-C-T
• gnomAD v4: 11-112164711-C-T
• MyVariant Identifiers: chr11:g.112035434C>T (hg19) ; chr11:g.112164711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164711C>T , CM000673.2:g.112164711C>T	GRCh38
NC_000011.9:g.112035434C>T , CM000673.1:g.112035434C>T	GRCh37
NC_000011.8:g.111540644C>T	NCBI36
NG_028143.1:g.4407G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5708C>T
ENST00000531744.5:c.315-5708C>T	ENSP00000456957.1:n.315-5708C>T
ENST00000532699.1:c.315-5708C>T	ENSP00000456434.1:n.315-5708C>T