Canonical Allele Identifier: CA353443

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 224121
• ClinVar RCV Id: RCV000209921
• dbSNP Id: rs869312686
• MyVariant Identifiers: chrX:g.153217504G>C (hg19) ; chrX:g.153952053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153952053G>C , CM000685.2:g.153952053G>C	GRCh38
NC_000023.10:g.153217504G>C , CM000685.1:g.153217504G>C	GRCh37
NC_000023.9:g.152870698G>C	NCBI36
NG_012513.1:g.24316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.5048C>G MANE Select	ENSP00000309555.7:p.Pro1683Arg
ENST00000310441.11:c.5048C>G	ENSP00000309555.7:p.Pro1683Arg
ENST00000369984.4:c.5183C>G	ENSP00000359001.4:p.Pro1728Arg
ENST00000444191.5:c.774C>G
NM_005334.2:c.5048C>G	NP_005325.2:p.Pro1683Arg
XM_006724815.1:c.5183C>G	XP_006724878.1:p.Pro1728Arg
XM_006724816.1:c.5180C>G	XP_006724879.1:p.Pro1727Arg
XM_011531144.1:c.5183C>G	XP_011529446.1:p.Pro1728Arg
XM_011531145.1:c.5180C>G	XP_011529447.1:p.Pro1727Arg
XM_011531146.1:c.5180C>G	XP_011529448.1:p.Pro1727Arg
XM_011531147.1:c.5051C>G	XP_011529449.1:p.Pro1684Arg
XM_011531148.1:c.5048C>G	XP_011529450.1:p.Pro1683Arg
XM_011531149.1:c.4985C>G	XP_011529451.1:p.Pro1662Arg
XM_011531150.1:c.4274C>G	XP_011529452.1:p.Pro1425Arg
XM_006724815.3:c.5183C>G	XP_006724878.1:p.Pro1728Arg
XM_006724816.3:c.5180C>G	XP_006724879.1:p.Pro1727Arg
XM_011531147.3:c.5051C>G	XP_011529449.1:p.Pro1684Arg
XM_011531148.3:c.5048C>G	XP_011529450.1:p.Pro1683Arg
XM_017029471.2:c.4982C>G	XP_016884960.1:p.Pro1661Arg
XM_017029472.1:c.4271C>G	XP_016884961.1:p.Pro1424Arg
NM_005334.3:c.5048C>G MANE Select	NP_005325.2:p.Pro1683Arg