Canonical Allele Identifier: CA228571732

Gene:

Linked Data

• dbSNP Id: rs533931944
• gnomAD v2: 11-112035418-T-C
• gnomAD v3: 11-112164695-T-C
• gnomAD v4: 11-112164695-T-C
• MyVariant Identifiers: chr11:g.112035418T>C (hg19) ; chr11:g.112164695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164695T>C , CM000673.2:g.112164695T>C	GRCh38
NC_000011.9:g.112035418T>C , CM000673.1:g.112035418T>C	GRCh37
NC_000011.8:g.111540628T>C	NCBI36
NG_028143.1:g.4423A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5724T>C
ENST00000531744.5:c.315-5724T>C	ENSP00000456957.1:n.315-5724T>C
ENST00000532699.1:c.315-5724T>C	ENSP00000456434.1:n.315-5724T>C