Canonical Allele Identifier: CA415110274

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 521664
• ClinVar RCV Id: RCV000624789
• dbSNP Id: rs1557112939
• gnomAD v4: X-153952697-G-A
• MyVariant Identifiers: chrX:g.153218148G>A (hg19) ; chrX:g.153952697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153952697G>A , CM000685.2:g.153952697G>A	GRCh38
NC_000023.10:g.153218148G>A , CM000685.1:g.153218148G>A	GRCh37
NC_000023.9:g.152871342G>A	NCBI36
NG_012513.1:g.23672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.4759C>T MANE Select	ENSP00000309555.7:p.Leu1587Phe
ENST00000310441.11:c.4759C>T	ENSP00000309555.7:p.Leu1587Phe
ENST00000369984.4:c.4891C>T	ENSP00000359001.4:p.Leu1631Phe
ENST00000444191.5:c.482C>T
NM_005334.2:c.4759C>T	NP_005325.2:p.Leu1587Phe
XM_006724815.1:c.4891C>T	XP_006724878.1:p.Leu1631Phe
XM_006724816.1:c.4891C>T	XP_006724879.1:p.Leu1631Phe
XM_011531144.1:c.4891C>T	XP_011529446.1:p.Leu1631Phe
XM_011531145.1:c.4891C>T	XP_011529447.1:p.Leu1631Phe
XM_011531146.1:c.4888C>T	XP_011529448.1:p.Leu1630Phe
XM_011531147.1:c.4759C>T	XP_011529449.1:p.Leu1587Phe
XM_011531148.1:c.4759C>T	XP_011529450.1:p.Leu1587Phe
XM_011531149.1:c.4693C>T	XP_011529451.1:p.Leu1565Phe
XM_011531150.1:c.3982C>T	XP_011529452.1:p.Leu1328Phe
XM_006724815.3:c.4891C>T	XP_006724878.1:p.Leu1631Phe
XM_006724816.3:c.4891C>T	XP_006724879.1:p.Leu1631Phe
XM_011531147.3:c.4759C>T	XP_011529449.1:p.Leu1587Phe
XM_011531148.3:c.4759C>T	XP_011529450.1:p.Leu1587Phe
XM_017029471.2:c.4693C>T	XP_016884960.1:p.Leu1565Phe
XM_017029472.1:c.3982C>T	XP_016884961.1:p.Leu1328Phe
NM_005334.3:c.4759C>T MANE Select	NP_005325.2:p.Leu1587Phe