Canonical Allele Identifier: CA10556812

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153951640C>G , CM000685.2:g.153951640C>G	GRCh38
NC_000023.10:g.153217091C>G , CM000685.1:g.153217091C>G	GRCh37
NC_000023.9:g.152870285C>G	NCBI36
NG_012513.1:g.24729G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005334.3:c.5328G>C MANE Select	NP_005325.2:p.Gln1776His
ENST00000310441.12:c.5328G>C MANE Select	ENSP00000309555.7:p.Gln1776His
NM_005334.2:c.5328G>C	NP_005325.2:p.Gln1776His
ENST00000310441.11:c.5328G>C	ENSP00000309555.7:p.Gln1776His
ENST00000369984.4:c.5463G>C	ENSP00000359001.4:p.Gln1821His
ENST00000444191.5:c.1054G>C
XM_006724815.1:c.5463G>C	XP_006724878.1:p.Gln1821His
XM_006724815.3:c.5463G>C	XP_006724878.1:p.Gln1821His
XM_006724816.1:c.5460G>C	XP_006724879.1:p.Gln1820His
XM_006724816.3:c.5460G>C	XP_006724879.1:p.Gln1820His
XM_011531144.1:c.5463G>C	XP_011529446.1:p.Gln1821His
XM_011531145.1:c.5460G>C	XP_011529447.1:p.Gln1820His
XM_011531146.1:c.5460G>C	XP_011529448.1:p.Gln1820His
XM_011531147.1:c.5331G>C	XP_011529449.1:p.Gln1777His
XM_011531147.3:c.5331G>C	XP_011529449.1:p.Gln1777His
XM_011531148.1:c.5328G>C	XP_011529450.1:p.Gln1776His
XM_011531148.3:c.5328G>C	XP_011529450.1:p.Gln1776His
XM_011531149.1:c.5265G>C	XP_011529451.1:p.Gln1755His
XM_011531150.1:c.4554G>C	XP_011529452.1:p.Gln1518His
XM_017029471.2:c.5262G>C	XP_016884960.1:p.Gln1754His
XM_017029472.1:c.4551G>C	XP_016884961.1:p.Gln1517His