Canonical Allele Identifier: CA2073100961
Gene: CHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132851563T= , CM000674.2:g.132851563T= GRCh38
NC_000012.11:g.133428149T= , CM000674.1:g.133428149T= GRCh37
NC_000012.10:g.131938222T= NCBI36
NG_033999.1:g.41056A=

Transcript Alleles

HGVS Amino-acid change
ENST00000450056.7:c.1492+55A= MANE Select ENSP00000398735.2:n.1492+55A=
ENST00000266880.11:c.1405+55A= ENSP00000266880.8:n.1405+55A=
ENST00000315585.11:c.928+55A= ENSP00000320557.8:n.928+55A=
ENST00000432561.6:c.1528+55A= ENSP00000392395.2:n.1528+55A=
ENST00000443047.6:c.1252+55A= ENSP00000416431.2:n.1252+55A=
ENST00000450056.6:c.1492+55A= ENSP00000398735.2:n.1492+55A=
ENST00000535527.5:c.99-2839A= ENSP00000478791.1:n.99-2839A=
ENST00000538235.2:n.59+1868A=
ENST00000544093.5:c.41+55A=
ENST00000544268.5:n.791+55A=
NM_001161344.1:c.1528+55A= NP_001154816.1:n.1528+55A=
NM_001161345.1:c.1525+55A= NP_001154817.1:n.1525+55A=
NM_001161346.1:c.1492+55A= NP_001154818.1:n.1492+55A=
NM_001161347.1:c.1252+55A= NP_001154819.1:n.1252+55A=
NM_018223.2:c.1405+55A= NP_060693.2:n.1405+55A=
NM_001161346.2:c.1492+55A= MANE Select NP_001154818.1:n.1492+55A=