Canonical Allele Identifier: CA356172276

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6293684G>C (hg19) ; chr4:g.6291957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291957G>C , CM000666.2:g.6291957G>C	GRCh38
NC_000004.11:g.6293684G>C , CM000666.1:g.6293684G>C	GRCh37
NC_000004.10:g.6344585G>C	NCBI36
NG_011700.1:g.27108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.672G>C	ENSP00000507852.1:p.Gln224His
ENST00000683395.1:c.649G>C
ENST00000684087.1:c.672G>C	ENSP00000506978.1:p.Gln224His
ENST00000506362.2:c.423G>C	ENSP00000424103.2:p.Gln141His
ENST00000673642.1:c.471G>C	ENSP00000501242.1:p.Gln157His
ENST00000673991.1:c.672G>C	ENSP00000501033.1:p.Gln224His
ENST00000226760.5:c.672G>C MANE Select	ENSP00000226760.1:p.Gln224His
ENST00000503569.5:c.672G>C	ENSP00000423337.1:p.Gln224His
ENST00000506362.1:c.269G>C
ENST00000507765.1:n.857G>C
NM_001145853.1:c.672G>C	NP_001139325.1:p.Gln224His
NM_006005.3:c.672G>C MANE Select	NP_005996.2:p.Gln224His
XM_017008586.1:c.681G>C	XP_016864075.1:p.Gln227His