Canonical Allele Identifier: CA134766663
Gene: OFCC1 HGNC NCBI

Linked Data

dbSNP Id: rs12210761
gnomAD v2: 6-10176036-G-A
gnomAD v3: 6-10175803-G-A
gnomAD v4: 6-10175803-G-A

Genomic Alleles

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

Transcript Alleles

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