Canonical Allele Identifier: CA228571739

Gene:

Linked Data

• dbSNP Id: rs1037707423
• gnomAD v2: 11-112035441-C-T
• gnomAD v3: 11-112164718-C-T
• gnomAD v4: 11-112164718-C-T
• MyVariant Identifiers: chr11:g.112035441C>T (hg19) ; chr11:g.112164718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164718C>T , CM000673.2:g.112164718C>T	GRCh38
NC_000011.9:g.112035441C>T , CM000673.1:g.112035441C>T	GRCh37
NC_000011.8:g.111540651C>T	NCBI36
NG_028143.1:g.4400G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5701C>T
ENST00000531744.5:c.315-5701C>T	ENSP00000456957.1:n.315-5701C>T
ENST00000532699.1:c.315-5701C>T	ENSP00000456434.1:n.315-5701C>T