Canonical Allele Identifier: CA2575361324

Gene: CHFR

Linked Data

• gnomAD v4: 12-132851569-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132851569C>T , CM000674.2:g.132851569C>T	GRCh38
NC_000012.11:g.133428155C>T , CM000674.1:g.133428155C>T	GRCh37
NC_000012.10:g.131938228C>T	NCBI36
NG_033999.1:g.41050G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450056.7:c.1492+49G>A MANE Select	ENSP00000398735.2:n.1492+49G>A
ENST00000266880.11:c.1405+49G>A	ENSP00000266880.8:n.1405+49G>A
ENST00000315585.11:c.928+49G>A	ENSP00000320557.8:n.928+49G>A
ENST00000432561.6:c.1528+49G>A	ENSP00000392395.2:n.1528+49G>A
ENST00000443047.6:c.1252+49G>A	ENSP00000416431.2:n.1252+49G>A
ENST00000450056.6:c.1492+49G>A	ENSP00000398735.2:n.1492+49G>A
ENST00000535527.5:c.99-2845G>A	ENSP00000478791.1:n.99-2845G>A
ENST00000538235.2:n.59+1862G>A
ENST00000544093.5:c.41+49G>A
ENST00000544268.5:n.791+49G>A
NM_001161344.1:c.1528+49G>A	NP_001154816.1:n.1528+49G>A
NM_001161345.1:c.1525+49G>A	NP_001154817.1:n.1525+49G>A
NM_001161346.1:c.1492+49G>A	NP_001154818.1:n.1492+49G>A
NM_001161347.1:c.1252+49G>A	NP_001154819.1:n.1252+49G>A
NM_018223.2:c.1405+49G>A	NP_060693.2:n.1405+49G>A
NM_001161346.2:c.1492+49G>A MANE Select	NP_001154818.1:n.1492+49G>A