Canonical Allele Identifier: CA10557117

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 450155
• ClinVar RCV Id: RCV000522865 ; RCV001314423 ; RCV002527603
• dbSNP Id: rs781949446
• ExAC: X:153219958 C / T
• gnomAD v2: X-153219958-C-T
• gnomAD v3: X-153954507-C-T
• gnomAD v4: X-153954507-C-T
• COSMIC: COSM1117728 ; COSM1117729
• MyVariant Identifiers: chrX:g.153219958C>T (hg19) ; chrX:g.153954507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954507C>T , CM000685.2:g.153954507C>T	GRCh38
NC_000023.10:g.153219958C>T , CM000685.1:g.153219958C>T	GRCh37
NC_000023.9:g.152873152C>T	NCBI36
NG_012513.1:g.21862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.3892G>A MANE Select	ENSP00000309555.7:p.Glu1298Lys
ENST00000310441.11:c.3892G>A	ENSP00000309555.7:p.Glu1298Lys
ENST00000369984.4:c.3892G>A	ENSP00000359001.4:p.Glu1298Lys
NM_005334.2:c.3892G>A	NP_005325.2:p.Glu1298Lys
XM_006724815.1:c.3892G>A	XP_006724878.1:p.Glu1298Lys
XM_006724816.1:c.3892G>A	XP_006724879.1:p.Glu1298Lys
XM_011531144.1:c.3892G>A	XP_011529446.1:p.Glu1298Lys
XM_011531145.1:c.3892G>A	XP_011529447.1:p.Glu1298Lys
XM_011531146.1:c.3892G>A	XP_011529448.1:p.Glu1298Lys
XM_011531147.1:c.3892G>A	XP_011529449.1:p.Glu1298Lys
XM_011531148.1:c.3892G>A	XP_011529450.1:p.Glu1298Lys
XM_011531149.1:c.3694G>A	XP_011529451.1:p.Glu1232Lys
XM_011531150.1:c.2983G>A	XP_011529452.1:p.Glu995Lys
XM_006724815.3:c.3892G>A	XP_006724878.1:p.Glu1298Lys
XM_006724816.3:c.3892G>A	XP_006724879.1:p.Glu1298Lys
XM_011531147.3:c.3892G>A	XP_011529449.1:p.Glu1298Lys
XM_011531148.3:c.3892G>A	XP_011529450.1:p.Glu1298Lys
XM_017029471.2:c.3694G>A	XP_016884960.1:p.Glu1232Lys
XM_017029472.1:c.2983G>A	XP_016884961.1:p.Glu995Lys
NM_005334.3:c.3892G>A MANE Select	NP_005325.2:p.Glu1298Lys