Canonical Allele Identifier: CA130460

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 39695
• ClinVar RCV Id: RCV000032897 ; RCV000059786
• dbSNP Id: rs318240758
• MyVariant Identifiers: chrX:g.153228714C>T (hg19) ; chrX:g.153963263C>T (hg38)
• PubMed: PMID:23000143

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153963263C>T , CM000685.2:g.153963263C>T	GRCh38
NC_000023.10:g.153228714C>T , CM000685.1:g.153228714C>T	GRCh37
NC_000023.9:g.152881908C>T	NCBI36
NG_012513.1:g.13106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.674G>A MANE Select	ENSP00000309555.7:p.Ser225Asn
ENST00000310441.11:c.674G>A	ENSP00000309555.7:p.Ser225Asn
ENST00000369984.4:c.674G>A	ENSP00000359001.4:p.Ser225Asn
NM_005334.2:c.674G>A	NP_005325.2:p.Ser225Asn
XM_006724815.1:c.674G>A	XP_006724878.1:p.Ser225Asn
XM_006724816.1:c.674G>A	XP_006724879.1:p.Ser225Asn
XM_011531144.1:c.674G>A	XP_011529446.1:p.Ser225Asn
XM_011531145.1:c.674G>A	XP_011529447.1:p.Ser225Asn
XM_011531146.1:c.674G>A	XP_011529448.1:p.Ser225Asn
XM_011531147.1:c.674G>A	XP_011529449.1:p.Ser225Asn
XM_011531148.1:c.674G>A	XP_011529450.1:p.Ser225Asn
XM_011531149.1:c.674G>A	XP_011529451.1:p.Ser225Asn
XM_006724815.3:c.674G>A	XP_006724878.1:p.Ser225Asn
XM_006724816.3:c.674G>A	XP_006724879.1:p.Ser225Asn
XM_011531147.3:c.674G>A	XP_011529449.1:p.Ser225Asn
XM_011531148.3:c.674G>A	XP_011529450.1:p.Ser225Asn
XM_017029471.2:c.674G>A	XP_016884960.1:p.Ser225Asn
NM_005334.3:c.674G>A MANE Select	NP_005325.2:p.Ser225Asn