Canonical Allele Identifier: CA519701938

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153952154G>A , CM000685.2:g.153952154G>A	GRCh38
NC_000023.10:g.153217605G>A , CM000685.1:g.153217605G>A	GRCh37
NC_000023.9:g.152870799G>A	NCBI36
NG_012513.1:g.24215C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005334.3:c.4947C>T MANE Select	NP_005325.2:p.Thr1649=
ENST00000310441.12:c.4947C>T MANE Select	ENSP00000309555.7:p.Thr1649=
NM_005334.2:c.4947C>T	NP_005325.2:p.Thr1649=
ENST00000310441.11:c.4947C>T	ENSP00000309555.7:p.Thr1649=
ENST00000369984.4:c.5082C>T	ENSP00000359001.4:p.Thr1694=
ENST00000444191.5:c.673C>T
XM_006724815.1:c.5082C>T	XP_006724878.1:p.Thr1694=
XM_006724815.3:c.5082C>T	XP_006724878.1:p.Thr1694=
XM_006724816.1:c.5079C>T	XP_006724879.1:p.Thr1693=
XM_006724816.3:c.5079C>T	XP_006724879.1:p.Thr1693=
XM_011531144.1:c.5082C>T	XP_011529446.1:p.Thr1694=
XM_011531145.1:c.5079C>T	XP_011529447.1:p.Thr1693=
XM_011531146.1:c.5079C>T	XP_011529448.1:p.Thr1693=
XM_011531147.1:c.4950C>T	XP_011529449.1:p.Thr1650=
XM_011531147.3:c.4950C>T	XP_011529449.1:p.Thr1650=
XM_011531148.1:c.4947C>T	XP_011529450.1:p.Thr1649=
XM_011531148.3:c.4947C>T	XP_011529450.1:p.Thr1649=
XM_011531149.1:c.4884C>T	XP_011529451.1:p.Thr1628=
XM_011531150.1:c.4173C>T	XP_011529452.1:p.Thr1391=
XM_017029471.2:c.4881C>T	XP_016884960.1:p.Thr1627=
XM_017029472.1:c.4170C>T	XP_016884961.1:p.Thr1390=