Canonical Allele Identifier: CA415119571

Gene: HCFC1

Linked Data

• ClinVar Variation Id: 2443395
• ClinVar RCV Id: RCV003152002
• MyVariant Identifiers: chrX:g.153220098T>C (hg19) ; chrX:g.153954647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954647T>C , CM000685.2:g.153954647T>C	GRCh38
NC_000023.10:g.153220098T>C , CM000685.1:g.153220098T>C	GRCh37
NC_000023.9:g.152873292T>C	NCBI36
NG_012513.1:g.21722A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310441.12:c.3752A>G MANE Select	ENSP00000309555.7:p.Glu1251Gly
ENST00000310441.11:c.3752A>G	ENSP00000309555.7:p.Glu1251Gly
ENST00000369984.4:c.3752A>G	ENSP00000359001.4:p.Glu1251Gly
NM_005334.2:c.3752A>G	NP_005325.2:p.Glu1251Gly
XM_006724815.1:c.3752A>G	XP_006724878.1:p.Glu1251Gly
XM_006724816.1:c.3752A>G	XP_006724879.1:p.Glu1251Gly
XM_011531144.1:c.3752A>G	XP_011529446.1:p.Glu1251Gly
XM_011531145.1:c.3752A>G	XP_011529447.1:p.Glu1251Gly
XM_011531146.1:c.3752A>G	XP_011529448.1:p.Glu1251Gly
XM_011531147.1:c.3752A>G	XP_011529449.1:p.Glu1251Gly
XM_011531148.1:c.3752A>G	XP_011529450.1:p.Glu1251Gly
XM_011531149.1:c.3554A>G	XP_011529451.1:p.Glu1185Gly
XM_011531150.1:c.2843A>G	XP_011529452.1:p.Glu948Gly
XM_006724815.3:c.3752A>G	XP_006724878.1:p.Glu1251Gly
XM_006724816.3:c.3752A>G	XP_006724879.1:p.Glu1251Gly
XM_011531147.3:c.3752A>G	XP_011529449.1:p.Glu1251Gly
XM_011531148.3:c.3752A>G	XP_011529450.1:p.Glu1251Gly
XM_017029471.2:c.3554A>G	XP_016884960.1:p.Glu1185Gly
XM_017029472.1:c.2843A>G	XP_016884961.1:p.Glu948Gly
NM_005334.3:c.3752A>G MANE Select	NP_005325.2:p.Glu1251Gly