Canonical Allele Identifier: CA415104415

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153951444T>C , CM000685.2:g.153951444T>C	GRCh38
NC_000023.10:g.153216895T>C , CM000685.1:g.153216895T>C	GRCh37
NC_000023.9:g.152870089T>C	NCBI36
NG_012513.1:g.24925A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005334.3:c.5423A>G MANE Select	NP_005325.2:p.Lys1808Arg
ENST00000310441.12:c.5423A>G MANE Select	ENSP00000309555.7:p.Lys1808Arg
NM_005334.2:c.5423A>G	NP_005325.2:p.Lys1808Arg
ENST00000310441.11:c.5423A>G	ENSP00000309555.7:p.Lys1808Arg
ENST00000369984.4:c.5558A>G	ENSP00000359001.4:p.Lys1853Arg
ENST00000444191.5:c.1149A>G
XM_006724815.1:c.5558A>G	XP_006724878.1:p.Lys1853Arg
XM_006724815.3:c.5558A>G	XP_006724878.1:p.Lys1853Arg
XM_006724816.1:c.5555A>G	XP_006724879.1:p.Lys1852Arg
XM_006724816.3:c.5555A>G	XP_006724879.1:p.Lys1852Arg
XM_011531144.1:c.5567A>G	XP_011529446.1:p.Lys1856Arg
XM_011531145.1:c.5564A>G	XP_011529447.1:p.Lys1855Arg
XM_011531146.1:c.5564A>G	XP_011529448.1:p.Lys1855Arg
XM_011531147.1:c.5435A>G	XP_011529449.1:p.Lys1812Arg
XM_011531147.3:c.5435A>G	XP_011529449.1:p.Lys1812Arg
XM_011531148.1:c.5432A>G	XP_011529450.1:p.Lys1811Arg
XM_011531148.3:c.5432A>G	XP_011529450.1:p.Lys1811Arg
XM_011531149.1:c.5369A>G	XP_011529451.1:p.Lys1790Arg
XM_011531150.1:c.4658A>G	XP_011529452.1:p.Lys1553Arg
XM_017029471.2:c.5357A>G	XP_016884960.1:p.Lys1786Arg
XM_017029472.1:c.4646A>G	XP_016884961.1:p.Lys1549Arg