Canonical Allele Identifier: CA1085896733
Gene: OFCC1 HGNC NCBI

Linked Data

dbSNP Id: rs1758339994
gnomAD v3: 6-10175720-A-G
gnomAD v4: 6-10175720-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10175720A>G , CM000668.2:g.10175720A>G GRCh38
NC_000006.11:g.10175953A>G , CM000668.1:g.10175953A>G GRCh37
NC_000006.10:g.10283939A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000462111.1:n.164-16221T>C
ENST00000481704.1:c.-101-16221T>C ENSP00000418286.1:n.-101-16221T>C
XM_017011612.1:c.-101-16221T>C XP_016867101.1:n.-101-16221T>C
NR_170155.1:n.232-16221T>C