Canonical Allele Identifier: CA144902

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 66985
• ClinVar RCV Id: RCV000057507 ; RCV000224133 ; RCV000224484 ; RCV001199845
• dbSNP Id: rs397515486
• gnomAD v4: X-153964702-G-A
• MyVariant Identifiers: chrX:g.153230153G>A (hg19) ; chrX:g.153964702G>A (hg38)
• PubMed: PMID:24011988 ; PMID:25167861

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153964702G>A , CM000685.2:g.153964702G>A	GRCh38
NC_000023.10:g.153230153G>A , CM000685.1:g.153230153G>A	GRCh37
NC_000023.9:g.152883347G>A	NCBI36
NG_012513.1:g.11667C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310441.12:c.218C>T MANE Select	ENSP00000309555.7:p.Ala73Val
ENST00000310441.11:c.218C>T	ENSP00000309555.7:p.Ala73Val
ENST00000369984.4:c.218C>T	ENSP00000359001.4:p.Ala73Val
NM_005334.2:c.218C>T	NP_005325.2:p.Ala73Val
XM_006724815.1:c.218C>T	XP_006724878.1:p.Ala73Val
XM_006724816.1:c.218C>T	XP_006724879.1:p.Ala73Val
XM_011531144.1:c.218C>T	XP_011529446.1:p.Ala73Val
XM_011531145.1:c.218C>T	XP_011529447.1:p.Ala73Val
XM_011531146.1:c.218C>T	XP_011529448.1:p.Ala73Val
XM_011531147.1:c.218C>T	XP_011529449.1:p.Ala73Val
XM_011531148.1:c.218C>T	XP_011529450.1:p.Ala73Val
XM_011531149.1:c.218C>T	XP_011529451.1:p.Ala73Val
XM_006724815.3:c.218C>T	XP_006724878.1:p.Ala73Val
XM_006724816.3:c.218C>T	XP_006724879.1:p.Ala73Val
XM_011531147.3:c.218C>T	XP_011529449.1:p.Ala73Val
XM_011531148.3:c.218C>T	XP_011529450.1:p.Ala73Val
XM_017029471.2:c.218C>T	XP_016884960.1:p.Ala73Val
NM_005334.3:c.218C>T MANE Select	NP_005325.2:p.Ala73Val