Canonical Allele Identifier: CA671766211
Gene:

Linked Data

dbSNP Id: rs1391698675
MyVariant Identifiers: chr11:g.112035459T>C (hg19) chr11:g.112164736T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164736T>C , CM000673.2:g.112164736T>C GRCh38
NC_000011.9:g.112035459T>C , CM000673.1:g.112035459T>C GRCh37
NC_000011.8:g.111540669T>C NCBI36
NG_028143.1:g.4382A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5683T>C
ENST00000531744.5:c.315-5683T>C ENSP00000456957.1:n.315-5683T>C
ENST00000532699.1:c.315-5683T>C ENSP00000456434.1:n.315-5683T>C
Search 100 bp 5'
Search 100 bp 3'