Canonical Allele Identifier: CA356172692

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6295191T>C , CM000666.2:g.6295191T>C	GRCh38
NC_000004.11:g.6296918T>C , CM000666.1:g.6296918T>C	GRCh37
NC_000004.10:g.6347819T>C	NCBI36
NG_011700.1:g.30342T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.861+2T>C MANE Select	NP_005996.2:n.861+2T>C
ENST00000226760.5:c.861+2T>C MANE Select	ENSP00000226760.1:n.861+2T>C
NM_001145853.1:c.861+2T>C	NP_001139325.1:n.861+2T>C
ENST00000503569.5:c.861+2T>C	ENSP00000423337.1:n.861+2T>C
ENST00000506362.1:c.494+2T>C
ENST00000506362.2:c.612+2T>C	ENSP00000424103.2:n.612+2T>C
ENST00000507765.1:n.1046+2T>C
ENST00000513395.1:n.419+2T>C
ENST00000673642.1:c.660+2T>C	ENSP00000501242.1:n.660+2T>C
ENST00000673991.1:c.897+2T>C	ENSP00000501033.1:n.897+2T>C
ENST00000682275.1:c.897+2T>C	ENSP00000507852.1:n.897+2T>C
ENST00000683395.1:c.838+2T>C
ENST00000684087.1:c.861+2T>C	ENSP00000506978.1:n.861+2T>C
XM_017008586.1:c.870+2T>C	XP_016864075.1:n.870+2T>C