Canonical Allele Identifier: CA144904

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 66986
• ClinVar RCV Id: RCV000057508 ; RCV002513745
• dbSNP Id: rs397515487
• MyVariant Identifiers: chrX:g.153230154C>T (hg19) ; chrX:g.153964703C>T (hg38)
• PubMed: PMID:24011988

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153964703C>T , CM000685.2:g.153964703C>T	GRCh38
NC_000023.10:g.153230154C>T , CM000685.1:g.153230154C>T	GRCh37
NC_000023.9:g.152883348C>T	NCBI36
NG_012513.1:g.11666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.217G>A MANE Select	ENSP00000309555.7:p.Ala73Thr
ENST00000310441.11:c.217G>A	ENSP00000309555.7:p.Ala73Thr
ENST00000369984.4:c.217G>A	ENSP00000359001.4:p.Ala73Thr
NM_005334.2:c.217G>A	NP_005325.2:p.Ala73Thr
XM_006724815.1:c.217G>A	XP_006724878.1:p.Ala73Thr
XM_006724816.1:c.217G>A	XP_006724879.1:p.Ala73Thr
XM_011531144.1:c.217G>A	XP_011529446.1:p.Ala73Thr
XM_011531145.1:c.217G>A	XP_011529447.1:p.Ala73Thr
XM_011531146.1:c.217G>A	XP_011529448.1:p.Ala73Thr
XM_011531147.1:c.217G>A	XP_011529449.1:p.Ala73Thr
XM_011531148.1:c.217G>A	XP_011529450.1:p.Ala73Thr
XM_011531149.1:c.217G>A	XP_011529451.1:p.Ala73Thr
XM_006724815.3:c.217G>A	XP_006724878.1:p.Ala73Thr
XM_006724816.3:c.217G>A	XP_006724879.1:p.Ala73Thr
XM_011531147.3:c.217G>A	XP_011529449.1:p.Ala73Thr
XM_011531148.3:c.217G>A	XP_011529450.1:p.Ala73Thr
XM_017029471.2:c.217G>A	XP_016884960.1:p.Ala73Thr
NM_005334.3:c.217G>A MANE Select	NP_005325.2:p.Ala73Thr