Canonical Allele Identifier: CA374619026

Gene: WHRN

Linked Data

• gnomAD v4: 9-114402902-T-C
• MyVariant Identifiers: chr9:g.117165182T>C (hg19) ; chr9:g.114402902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402902T>C , CM000671.2:g.114402902T>C	GRCh38
NC_000009.11:g.117165182T>C , CM000671.1:g.117165182T>C	GRCh37
NC_000009.10:g.116205003T>C	NCBI36
NG_016700.1:g.107555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.920A>G	ENSP00000514396.1:p.Lys307Arg
ENST00000362057.4:c.2576A>G MANE Select	ENSP00000354623.3:p.Lys859Arg
ENST00000674036.8:c.1549A>G
ENST00000674048.1:n.2457A>G
ENST00000265134.10:c.1427A>G	ENSP00000265134.6:p.Lys476Arg
ENST00000362057.3:c.2576A>G	ENSP00000354623.3:p.Lys859Arg
ENST00000374059.7:c.1523A>G	ENSP00000363172.3:p.Lys508Arg
NM_001083885.2:c.1427A>G	NP_001077354.2:p.Lys476Arg
NM_001173425.1:c.2573A>G	NP_001166896.1:p.Lys858Arg
NM_015404.3:c.2576A>G	NP_056219.3:p.Lys859Arg
XM_005251897.3:c.1913A>G	XP_005251954.2:p.Lys638Arg
XM_011518484.1:c.2609A>G	XP_011516786.1:p.Lys870Arg
XM_011518485.1:c.2609A>G	XP_011516787.1:p.Lys870Arg
XM_011518486.1:c.2606A>G	XP_011516788.1:p.Lys869Arg
XM_011518487.1:c.2483A>G	XP_011516789.1:p.Lys828Arg
XM_011518488.1:c.2366A>G	XP_011516790.1:p.Lys789Arg
XM_011518495.1:c.1286A>G	XP_011516797.1:p.Lys429Arg
NM_001346890.1:c.1523A>G	NP_001333819.1:p.Lys508Arg
XM_011518486.2:c.2606A>G	XP_011516788.1:p.Lys869Arg
XM_011518487.2:c.2483A>G	XP_011516789.1:p.Lys828Arg
XM_011518488.2:c.2366A>G	XP_011516790.1:p.Lys789Arg
NM_015404.4:c.2576A>G MANE Select	NP_056219.3:p.Lys859Arg
NM_001173425.2:c.2573A>G	NP_001166896.1:p.Lys858Arg
NM_001083885.3:c.1427A>G	NP_001077354.2:p.Lys476Arg