Canonical Allele Identifier: CA10581326

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 235485
• ClinVar RCV Id: RCV000224398
• dbSNP Id: rs878853049
• MyVariant Identifiers: chrX:g.153217045C>A (hg19) ; chrX:g.153951594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153951594C>A , CM000685.2:g.153951594C>A	GRCh38
NC_000023.10:g.153217045C>A , CM000685.1:g.153217045C>A	GRCh37
NC_000023.9:g.152870239C>A	NCBI36
NG_012513.1:g.24775G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.5374G>T MANE Select	ENSP00000309555.7:p.Gly1792Cys
ENST00000310441.11:c.5374G>T	ENSP00000309555.7:p.Gly1792Cys
ENST00000369984.4:c.5509G>T	ENSP00000359001.4:p.Gly1837Cys
ENST00000444191.5:c.1100G>T
NM_005334.2:c.5374G>T	NP_005325.2:p.Gly1792Cys
XM_006724815.1:c.5509G>T	XP_006724878.1:p.Gly1837Cys
XM_006724816.1:c.5506G>T	XP_006724879.1:p.Gly1836Cys
XM_011531144.1:c.5509G>T	XP_011529446.1:p.Gly1837Cys
XM_011531145.1:c.5506G>T	XP_011529447.1:p.Gly1836Cys
XM_011531146.1:c.5506G>T	XP_011529448.1:p.Gly1836Cys
XM_011531147.1:c.5377G>T	XP_011529449.1:p.Gly1793Cys
XM_011531148.1:c.5374G>T	XP_011529450.1:p.Gly1792Cys
XM_011531149.1:c.5311G>T	XP_011529451.1:p.Gly1771Cys
XM_011531150.1:c.4600G>T	XP_011529452.1:p.Gly1534Cys
XM_006724815.3:c.5509G>T	XP_006724878.1:p.Gly1837Cys
XM_006724816.3:c.5506G>T	XP_006724879.1:p.Gly1836Cys
XM_011531147.3:c.5377G>T	XP_011529449.1:p.Gly1793Cys
XM_011531148.3:c.5374G>T	XP_011529450.1:p.Gly1792Cys
XM_017029471.2:c.5308G>T	XP_016884960.1:p.Gly1770Cys
XM_017029472.1:c.4597G>T	XP_016884961.1:p.Gly1533Cys
NM_005334.3:c.5374G>T MANE Select	NP_005325.2:p.Gly1792Cys