Canonical Allele Identifier: CA565477945
Gene: OFCC1 HGNC NCBI

Linked Data

dbSNP Id: rs1261892228
gnomAD v2: 6-10176008-C-T
gnomAD v3: 6-10175775-C-T
gnomAD v4: 6-10175775-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10175775C>T , CM000668.2:g.10175775C>T GRCh38
NC_000006.11:g.10176008C>T , CM000668.1:g.10176008C>T GRCh37
NC_000006.10:g.10283994C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000462111.1:n.164-16276G>A
ENST00000481704.1:c.-101-16276G>A ENSP00000418286.1:n.-101-16276G>A
XM_017011612.1:c.-101-16276G>A XP_016867101.1:n.-101-16276G>A
NR_170155.1:n.232-16276G>A