Canonical Allele Identifier: CA2511574917
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6300545-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300545G>T , CM000666.2:g.6300545G>T GRCh38
NC_000004.11:g.6302272G>T , CM000666.1:g.6302272G>T GRCh37
NC_000004.10:g.6353173G>T NCBI36
NG_011700.1:g.35696G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.898-112G>T ENSP00000507852.1:n.898-112G>T
ENST00000683395.1:c.839-112G>T
ENST00000684087.1:c.862-112G>T ENSP00000506978.1:n.862-112G>T
ENST00000506362.2:c.613-112G>T ENSP00000424103.2:n.613-112G>T
ENST00000673642.1:c.661-252G>T ENSP00000501242.1:n.661-252G>T
ENST00000673991.1:c.898-112G>T ENSP00000501033.1:n.898-112G>T
ENST00000226760.5:c.862-112G>T MANE Select ENSP00000226760.1:n.862-112G>T
ENST00000503569.5:c.862-112G>T ENSP00000423337.1:n.862-112G>T
ENST00000506362.1:c.495-112G>T
ENST00000507765.1:n.1047-112G>T
ENST00000513395.1:n.420-112G>T
NM_001145853.1:c.862-112G>T NP_001139325.1:n.862-112G>T
NM_006005.3:c.862-112G>T MANE Select NP_005996.2:n.862-112G>T
XM_017008586.1:c.871-112G>T XP_016864075.1:n.871-112G>T