Canonical Allele Identifier: CA206566

Gene: PHC1

Linked Data

• ClinVar Variation Id: 211897
• ClinVar RCV Id: RCV000193228 ; RCV000763869
• dbSNP Id: rs372044180
• ExAC: 12:9089920 C / T
• gnomAD v2: 12-9089920-C-T
• gnomAD v3: 12-8937324-C-T
• gnomAD v4: 12-8937324-C-T
• MyVariant Identifiers: chr12:g.9089920C>T (hg19) ; chr12:g.8937324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8937324C>T , CM000674.2:g.8937324C>T	GRCh38
NC_000012.11:g.9089920C>T , CM000674.1:g.9089920C>T	GRCh37
NC_000012.10:g.8981187C>T	NCBI36
NG_042273.1:g.27605C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000544916.6:c.2626C>T MANE Select	ENSP00000437659.1:p.Arg876Trp
ENST00000433083.6:c.2491C>T	ENSP00000399194.2:p.Arg831Trp
ENST00000540574.5:c.*1476C>T	ENSP00000444308.1:n.*1476C>T
ENST00000542346.1:c.284-2547C>T	ENSP00000446388.1:n.284-2547C>T
ENST00000543824.5:c.2626C>T	ENSP00000440674.1:p.Arg876Trp
ENST00000544916.5:c.2626C>T	ENSP00000437659.1:p.Arg876Trp
NM_004426.2:c.2626C>T	NP_004417.2:p.Arg876Trp
XM_005253334.1:c.2602C>T	XP_005253391.1:p.Arg868Trp
XM_011520598.1:c.2677C>T	XP_011518900.1:p.Arg893Trp
XM_011520599.1:c.2653C>T	XP_011518901.1:p.Arg885Trp
XM_011520600.1:c.2527C>T	XP_011518902.1:p.Arg843Trp
XM_011520601.1:c.2521C>T	XP_011518903.1:p.Arg841Trp
XM_011520602.1:c.2470C>T	XP_011518904.1:p.Arg824Trp
XM_011520603.1:c.2677C>T	XP_011518905.1:p.Arg893Trp
XM_005253334.3:c.2602C>T	XP_005253391.1:p.Arg868Trp
XM_011520599.2:c.2653C>T	XP_011518901.1:p.Arg885Trp
XM_011520600.2:c.2527C>T	XP_011518902.1:p.Arg843Trp
XM_011520603.2:c.2677C>T	XP_011518905.1:p.Arg893Trp
XM_017018955.2:c.2677C>T	XP_016874444.1:p.Arg893Trp
XM_017018956.1:c.2503C>T	XP_016874445.1:p.Arg835Trp
XM_017018957.1:c.2476C>T	XP_016874446.1:p.Arg826Trp
XM_017018958.1:c.2452C>T	XP_016874447.1:p.Arg818Trp
NM_004426.3:c.2626C>T MANE Select	NP_004417.2:p.Arg876Trp