Canonical Allele Identifier: CA816330143
Gene: OFCC1 HGNC NCBI

Linked Data

dbSNP Id: rs12210761
gnomAD v3: 6-10175803-G-T
gnomAD v4: 6-10175803-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10175803G>T , CM000668.2:g.10175803G>T GRCh38
NC_000006.11:g.10176036G>T , CM000668.1:g.10176036G>T GRCh37
NC_000006.10:g.10284022G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000462111.1:n.164-16304C>A
ENST00000481704.1:c.-101-16304C>A ENSP00000418286.1:n.-101-16304C>A
XM_017011612.1:c.-101-16304C>A XP_016867101.1:n.-101-16304C>A
NR_170155.1:n.232-16304C>A