Canonical Allele Identifier: CA134766669
Gene: OFCC1 HGNC NCBI

Linked Data

dbSNP Id: rs969983239
gnomAD v3: 6-10175891-C-T
gnomAD v4: 6-10175891-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10175891C>T , CM000668.2:g.10175891C>T GRCh38
NC_000006.11:g.10176124C>T , CM000668.1:g.10176124C>T GRCh37
NC_000006.10:g.10284110C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000462111.1:n.164-16392G>A
ENST00000481704.1:c.-101-16392G>A ENSP00000418286.1:n.-101-16392G>A
XM_017011612.1:c.-101-16392G>A XP_016867101.1:n.-101-16392G>A
NR_170155.1:n.232-16392G>A