Canonical Allele Identifier: CA438368454

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301862-C-T
• MyVariant Identifiers: chr4:g.6303589C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301862C>T , CM000666.2:g.6301862C>T	GRCh38
NC_000004.11:g.6303589C>T , CM000666.1:g.6303589C>T	GRCh37
NC_000004.10:g.6354490C>T	NCBI36
NG_011700.1:g.37013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2103C>T	ENSP00000507852.1:p.Leu701=
ENST00000683395.1:c.2044C>T
ENST00000684087.1:c.2067C>T	ENSP00000506978.1:p.Leu689=
ENST00000506362.2:c.1818C>T	ENSP00000424103.2:p.Leu606=
ENST00000673642.1:c.1726C>T	ENSP00000501242.1:n.1726C>T
ENST00000673991.1:c.2103C>T	ENSP00000501033.1:p.Leu701=
ENST00000226760.5:c.2067C>T MANE Select	ENSP00000226760.1:p.Leu689=
ENST00000503569.5:c.2067C>T	ENSP00000423337.1:p.Leu689=
ENST00000507765.1:n.2252C>T
NM_001145853.1:c.2067C>T	NP_001139325.1:p.Leu689=
NM_006005.3:c.2067C>T MANE Select	NP_005996.2:p.Leu689=
XM_017008586.1:c.2076C>T	XP_016864075.1:p.Leu692=