Canonical Allele Identifier: CA415134464

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153958240G>C , CM000685.2:g.153958240G>C	GRCh38
NC_000023.10:g.153223691G>C , CM000685.1:g.153223691G>C	GRCh37
NC_000023.9:g.152876885G>C	NCBI36
NG_012513.1:g.18129C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005334.3:c.1813C>G MANE Select	NP_005325.2:p.Pro605Ala
ENST00000310441.12:c.1813C>G MANE Select	ENSP00000309555.7:p.Pro605Ala
NM_005334.2:c.1813C>G	NP_005325.2:p.Pro605Ala
ENST00000310441.11:c.1813C>G	ENSP00000309555.7:p.Pro605Ala
ENST00000369984.4:c.1813C>G	ENSP00000359001.4:p.Pro605Ala
XM_006724815.1:c.1813C>G	XP_006724878.1:p.Pro605Ala
XM_006724815.3:c.1813C>G	XP_006724878.1:p.Pro605Ala
XM_006724816.1:c.1813C>G	XP_006724879.1:p.Pro605Ala
XM_006724816.3:c.1813C>G	XP_006724879.1:p.Pro605Ala
XM_011531144.1:c.1813C>G	XP_011529446.1:p.Pro605Ala
XM_011531145.1:c.1813C>G	XP_011529447.1:p.Pro605Ala
XM_011531146.1:c.1813C>G	XP_011529448.1:p.Pro605Ala
XM_011531147.1:c.1813C>G	XP_011529449.1:p.Pro605Ala
XM_011531147.3:c.1813C>G	XP_011529449.1:p.Pro605Ala
XM_011531148.1:c.1813C>G	XP_011529450.1:p.Pro605Ala
XM_011531148.3:c.1813C>G	XP_011529450.1:p.Pro605Ala
XM_011531149.1:c.1615C>G	XP_011529451.1:p.Pro539Ala
XM_011531150.1:c.904C>G	XP_011529452.1:p.Pro302Ala
XM_017029471.2:c.1615C>G	XP_016884960.1:p.Pro539Ala
XM_017029472.1:c.904C>G	XP_016884961.1:p.Pro302Ala