Canonical Allele Identifier: CA415105163

Gene: HCFC1

Genomic Alleles

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

Transcript Alleles

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