Canonical Allele Identifier: CA232376

Gene: FAM114A1

Linked Data

• ClinVar Variation Id: 92026
• ClinVar RCV Id: RCV000122583
• dbSNP Id: rs386352300
• MyVariant Identifiers: chr4:g.38910259G>C (hg19) ; chr4:g.38908638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38908638G>C , CM000666.2:g.38908638G>C	GRCh38
NC_000004.11:g.38910259G>C , CM000666.1:g.38910259G>C	GRCh37
NC_000004.10:g.38586654G>C	NCBI36
NG_053162.1:g.45962G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358869.5:c.704G>C MANE Select	ENSP00000351740.2:p.Gly235Ala
ENST00000358869.4:c.704G>C	ENSP00000351740.2:p.Gly235Ala
ENST00000515037.5:c.83G>C	ENSP00000424115.1:p.Gly28Ala
NM_138389.2:c.704G>C	NP_612398.2:p.Gly235Ala
NR_033290.1:n.458G>C
XM_005262672.1:c.704G>C	XP_005262729.1:p.Gly235Ala
XM_005262673.1:c.704G>C	XP_005262730.1:p.Gly235Ala
XM_006714033.1:c.83G>C	XP_006714096.1:p.Gly28Ala
XM_011513763.1:c.653G>C	XP_011512065.1:p.Gly218Ala
NM_001330764.1:c.83G>C	NP_001317693.1:p.Gly28Ala
NM_001350631.1:c.83G>C	NP_001337560.1:p.Gly28Ala
NM_001350632.1:c.698G>C	NP_001337561.1:p.Gly233Ala
NM_001350633.1:c.323G>C	NP_001337562.1:p.Gly108Ala
NM_001350634.1:c.110G>C	NP_001337563.1:p.Gly37Ala
NM_001350635.1:c.704G>C	NP_001337564.1:p.Gly235Ala
NM_138389.3:c.704G>C	NP_612398.2:p.Gly235Ala
XM_005262672.2:c.704G>C	XP_005262729.1:p.Gly235Ala
NM_138389.4:c.704G>C MANE Select	NP_612398.2:p.Gly235Ala
NM_001330764.2:c.83G>C	NP_001317693.1:p.Gly28Ala
NM_001350631.2:c.83G>C	NP_001337560.1:p.Gly28Ala
NM_001350632.2:c.698G>C	NP_001337561.1:p.Gly233Ala
NM_001350633.2:c.323G>C	NP_001337562.1:p.Gly108Ala
NM_001350634.2:c.110G>C	NP_001337563.1:p.Gly37Ala
NM_001350635.2:c.704G>C	NP_001337564.1:p.Gly235Ala
NM_001375792.1:c.704G>C	NP_001362721.1:p.Gly235Ala
NM_001375793.1:c.704G>C	NP_001362722.1:p.Gly235Ala
NR_033290.2:n.385G>C
NM_001350635.3:c.704G>C	NP_001337564.1:p.Gly235Ala