Canonical Allele Identifier: CA374608902

Gene: WHRN

Linked Data

• gnomAD v4: 9-114424477-G-C
• MyVariant Identifiers: chr9:g.117186757G>C (hg19) ; chr9:g.114424477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114424477G>C , CM000671.2:g.114424477G>C	GRCh38
NC_000009.11:g.117186757G>C , CM000671.1:g.117186757G>C	GRCh37
NC_000009.10:g.116226578G>C	NCBI36
NG_016700.1:g.85980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699486.1:c.997C>G	ENSP00000514397.1:p.Leu333Val
ENST00000362057.4:c.1273C>G MANE Select	ENSP00000354623.3:p.Leu425Val
ENST00000673811.1:n.2207C>G
ENST00000674036.8:c.456C>G
ENST00000674048.1:n.1154C>G
ENST00000265134.10:c.124C>G	ENSP00000265134.6:p.Leu42Val
ENST00000362057.3:c.1273C>G	ENSP00000354623.3:p.Leu425Val
ENST00000374059.7:c.220C>G	ENSP00000363172.3:p.Leu74Val
NM_001083885.2:c.124C>G	NP_001077354.2:p.Leu42Val
NM_001173425.1:c.1273C>G	NP_001166896.1:p.Leu425Val
NM_015404.3:c.1273C>G	NP_056219.3:p.Leu425Val
XM_005251897.3:c.964-16459C>G	XP_005251954.2:n.964-16459C>G
XM_011518484.1:c.1273C>G	XP_011516786.1:p.Leu425Val
XM_011518485.1:c.1273C>G	XP_011516787.1:p.Leu425Val
XM_011518486.1:c.1273C>G	XP_011516788.1:p.Leu425Val
XM_011518487.1:c.1147C>G	XP_011516789.1:p.Leu383Val
XM_011518488.1:c.1273C>G	XP_011516790.1:p.Leu425Val
XM_011518489.1:c.1273C>G	XP_011516791.1:p.Leu425Val
XM_011518490.1:c.1273C>G	XP_011516792.1:p.Leu425Val
XM_011518491.1:c.1273C>G	XP_011516793.1:p.Leu425Val
XM_011518492.1:c.1273C>G	XP_011516794.1:p.Leu425Val
XM_011518493.1:c.1273C>G	XP_011516795.1:p.Leu425Val
XM_011518494.1:c.1273C>G	XP_011516796.1:p.Leu425Val
XM_011518495.1:c.-51C>G	XP_011516797.1:n.-51C>G
XR_929747.1:n.1981C>G
XR_929748.1:n.1981C>G
XR_929749.1:n.1981C>G
XR_929750.1:n.1981C>G
XR_929751.1:n.1981C>G
XR_929752.1:n.1981C>G
XR_929753.1:n.1981C>G
XR_929754.1:n.1981C>G
XR_929755.1:n.1981C>G
XR_929756.1:n.1981C>G
XR_929757.1:n.1981C>G
NM_001346890.1:c.220C>G	NP_001333819.1:p.Leu74Val
XM_011518486.2:c.1273C>G	XP_011516788.1:p.Leu425Val
XM_011518487.2:c.1147C>G	XP_011516789.1:p.Leu383Val
XM_011518488.2:c.1273C>G	XP_011516790.1:p.Leu425Val
XM_011518489.3:c.1273C>G	XP_011516791.1:p.Leu425Val
XM_011518491.3:c.1273C>G	XP_011516793.1:p.Leu425Val
XM_011518492.2:c.1273C>G	XP_011516794.1:p.Leu425Val
XM_011518494.3:c.1273C>G	XP_011516796.1:p.Leu425Val
XR_929747.2:n.1292C>G
XR_929748.2:n.1292C>G
XR_929749.2:n.1292C>G
XR_929750.3:n.1292C>G
XR_929752.2:n.1292C>G
XR_929753.3:n.1292C>G
XR_929754.2:n.1292C>G
XR_929755.3:n.1292C>G
XR_929756.2:n.1292C>G
XR_929757.2:n.1292C>G
NM_015404.4:c.1273C>G MANE Select	NP_056219.3:p.Leu425Val
NM_001173425.2:c.1273C>G	NP_001166896.1:p.Leu425Val
NM_001083885.3:c.124C>G	NP_001077354.2:p.Leu42Val