Canonical Allele Identifier: CA374619574

Gene: WHRN

Linked Data

• gnomAD v4: 9-114403934-G-T
• MyVariant Identifiers: chr9:g.117166214G>T (hg19) ; chr9:g.114403934G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403934G>T , CM000671.2:g.114403934G>T	GRCh38
NC_000009.11:g.117166214G>T , CM000671.1:g.117166214G>T	GRCh37
NC_000009.10:g.116206035G>T	NCBI36
NG_016700.1:g.106523C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.724C>A	ENSP00000514396.1:p.Pro242Thr
ENST00000362057.4:c.2380C>A MANE Select	ENSP00000354623.3:p.Pro794Thr
ENST00000674036.8:c.1353C>A
ENST00000674048.1:n.2261C>A
ENST00000265134.10:c.1231C>A	ENSP00000265134.6:p.Pro411Thr
ENST00000362057.3:c.2380C>A	ENSP00000354623.3:p.Pro794Thr
ENST00000374059.7:c.1327C>A	ENSP00000363172.3:p.Pro443Thr
NM_001083885.2:c.1231C>A	NP_001077354.2:p.Pro411Thr
NM_001173425.1:c.2377C>A	NP_001166896.1:p.Pro793Thr
NM_015404.3:c.2380C>A	NP_056219.3:p.Pro794Thr
XM_005251897.3:c.1717C>A	XP_005251954.2:p.Pro573Thr
XM_011518484.1:c.2413C>A	XP_011516786.1:p.Pro805Thr
XM_011518485.1:c.2413C>A	XP_011516787.1:p.Pro805Thr
XM_011518486.1:c.2410C>A	XP_011516788.1:p.Pro804Thr
XM_011518487.1:c.2287C>A	XP_011516789.1:p.Pro763Thr
XM_011518488.1:c.2170C>A	XP_011516790.1:p.Pro724Thr
XM_011518495.1:c.1090C>A	XP_011516797.1:p.Pro364Thr
XR_929747.1:n.3317C>A
XR_929748.1:n.3215C>A
NM_001346890.1:c.1327C>A	NP_001333819.1:p.Pro443Thr
XM_011518486.2:c.2410C>A	XP_011516788.1:p.Pro804Thr
XM_011518487.2:c.2287C>A	XP_011516789.1:p.Pro763Thr
XM_011518488.2:c.2170C>A	XP_011516790.1:p.Pro724Thr
XR_929747.2:n.2628C>A
XR_929748.2:n.2526C>A
NM_015404.4:c.2380C>A MANE Select	NP_056219.3:p.Pro794Thr
NM_001173425.2:c.2377C>A	NP_001166896.1:p.Pro793Thr
NM_001083885.3:c.1231C>A	NP_001077354.2:p.Pro411Thr