Canonical Allele Identifier: CA1085892117

Gene: OFCC1

Linked Data

• dbSNP Id: rs1475901272
• gnomAD v3: 6-9993449-G-A
• gnomAD v4: 6-9993449-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.9993449G>A , CM000668.2:g.9993449G>A	GRCh38
NC_000006.11:g.9993682G>A , CM000668.1:g.9993682G>A	GRCh37
NC_000006.10:g.10101668G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472329.5:n.117-54100C>T
ENST00000481704.1:c.6-54100C>T	ENSP00000418286.1:n.6-54100C>T
ENST00000485268.1:c.-290-45987C>T	ENSP00000417933.1:n.-290-45987C>T
XM_011515036.1:c.123-54100C>T	XP_011513338.1:n.123-54100C>T
XM_017011612.1:c.6-54100C>T	XP_016867101.1:n.6-54100C>T
NR_170155.1:n.338-54100C>T