Canonical Allele Identifier: CA707488627

Gene: PRKCH

Linked Data

• dbSNP Id: rs1172699778
• gnomAD v3: 14-61441653-T-C
• gnomAD v4: 14-61441653-T-C
• MyVariant Identifiers: chr14:g.61908371T>C (hg19) ; chr14:g.61441653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61441653T>C , CM000676.2:g.61441653T>C	GRCh38
NC_000014.8:g.61908371T>C , CM000676.1:g.61908371T>C	GRCh37
NC_000014.7:g.60978124T>C	NCBI36
NG_011514.1:g.124857T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000332981.11:c.428-1458T>C MANE Select	ENSP00000329127.5:n.428-1458T>C
ENST00000332981.10:c.428-1458T>C	ENSP00000329127.5:n.428-1458T>C
ENST00000332981.9:c.428-1458T>C	ENSP00000329127.5:n.428-1458T>C
ENST00000553265.5:c.-56-1458T>C	ENSP00000451933.1:n.-56-1458T>C
ENST00000553726.5:c.-229-4039T>C	ENSP00000451793.1:n.-229-4039T>C
ENST00000553830.1:c.254-1458T>C	ENSP00000452588.1:n.254-1458T>C
ENST00000553831.5:c.-56-1458T>C	ENSP00000450959.1:n.-56-1458T>C
ENST00000555082.5:c.-56-1458T>C	ENSP00000450981.1:n.-56-1458T>C
ENST00000555185.5:c.-18-43849T>C	ENSP00000451871.1:n.-18-43849T>C
ENST00000555542.5:c.-56-1458T>C	ENSP00000451789.1:n.-56-1458T>C
ENST00000555906.5:c.-56-1458T>C	ENSP00000451205.1:n.-56-1458T>C
ENST00000556164.5:c.-56-1458T>C	ENSP00000452330.1:n.-56-1458T>C
ENST00000556778.5:c.-56-1458T>C	ENSP00000452055.1:n.-56-1458T>C
ENST00000557585.5:c.-56-1458T>C	ENSP00000451930.1:n.-56-1458T>C
NM_006255.4:c.428-1458T>C	NP_006246.2:n.428-1458T>C
XM_011536954.1:c.191-1458T>C	XP_011535256.1:n.191-1458T>C
XM_011536955.1:c.188-1458T>C	XP_011535257.1:n.188-1458T>C
XM_011536956.1:c.428-1458T>C	XP_011535258.1:n.428-1458T>C
XM_011536957.1:c.428-1458T>C	XP_011535259.1:n.428-1458T>C
XM_011536954.3:c.191-1458T>C	XP_011535256.1:n.191-1458T>C
XM_017021458.1:c.-56-1458T>C	XP_016876947.1:n.-56-1458T>C
XM_017021459.1:c.428-1458T>C	XP_016876948.1:n.428-1458T>C
XM_024449661.1:c.-56-1458T>C	XP_024305429.1:n.-56-1458T>C
XM_024449662.1:c.-56-1458T>C	XP_024305430.1:n.-56-1458T>C
NM_006255.5:c.428-1458T>C MANE Select	NP_006246.2:n.428-1458T>C