Canonical Allele Identifier: CA519697051

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153950358G>A , CM000685.2:g.153950358G>A	GRCh38
NC_000023.10:g.153215809G>A , CM000685.1:g.153215809G>A	GRCh37
NC_000023.9:g.152869003G>A	NCBI36
NG_012513.1:g.26011C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005334.3:c.5889C>T MANE Select	NP_005325.2:p.Ser1963=
ENST00000310441.12:c.5889C>T MANE Select	ENSP00000309555.7:p.Ser1963=
NM_005334.2:c.5889C>T	NP_005325.2:p.Ser1963=
ENST00000310441.11:c.5889C>T	ENSP00000309555.7:p.Ser1963=
ENST00000369984.4:c.6024C>T	ENSP00000359001.4:p.Ser2008=
ENST00000444191.5:c.1615C>T
XM_006724815.1:c.6024C>T	XP_006724878.1:p.Ser2008=
XM_006724815.3:c.6024C>T	XP_006724878.1:p.Ser2008=
XM_006724816.1:c.6021C>T	XP_006724879.1:p.Ser2007=
XM_006724816.3:c.6021C>T	XP_006724879.1:p.Ser2007=
XM_011531144.1:c.6033C>T	XP_011529446.1:p.Ser2011=
XM_011531145.1:c.6030C>T	XP_011529447.1:p.Ser2010=
XM_011531146.1:c.6030C>T	XP_011529448.1:p.Ser2010=
XM_011531147.1:c.5901C>T	XP_011529449.1:p.Ser1967=
XM_011531147.3:c.5901C>T	XP_011529449.1:p.Ser1967=
XM_011531148.1:c.5898C>T	XP_011529450.1:p.Ser1966=
XM_011531148.3:c.5898C>T	XP_011529450.1:p.Ser1966=
XM_011531149.1:c.5835C>T	XP_011529451.1:p.Ser1945=
XM_011531150.1:c.5124C>T	XP_011529452.1:p.Ser1708=
XM_017029471.2:c.5823C>T	XP_016884960.1:p.Ser1941=
XM_017029472.1:c.5112C>T	XP_016884961.1:p.Ser1704=