Canonical Allele Identifier: CA136908

Gene: WHRN

Linked Data

• ClinVar Variation Id: 45670
• ClinVar RCV Id: RCV000038888
• dbSNP Id: rs142685292
• ExAC: 9:117166301 C / G
• gnomAD v2: 9-117166301-C-G
• gnomAD v3: 9-114404021-C-G
• gnomAD v4: 9-114404021-C-G
• MyVariant Identifiers: chr9:g.117166301C>G (hg19) ; chr9:g.114404021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404021C>G , CM000671.2:g.114404021C>G	GRCh38
NC_000009.11:g.117166301C>G , CM000671.1:g.117166301C>G	GRCh37
NC_000009.10:g.116206122C>G	NCBI36
NG_016700.1:g.106436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.637G>C	ENSP00000514396.1:p.Gly213Arg
ENST00000362057.4:c.2293G>C MANE Select	ENSP00000354623.3:p.Gly765Arg
ENST00000674036.8:c.1266G>C
ENST00000674048.1:n.2174G>C
ENST00000265134.10:c.1144G>C	ENSP00000265134.6:p.Gly382Arg
ENST00000362057.3:c.2293G>C	ENSP00000354623.3:p.Gly765Arg
ENST00000374059.7:c.1240G>C	ENSP00000363172.3:p.Gly414Arg
NM_001083885.2:c.1144G>C	NP_001077354.2:p.Gly382Arg
NM_001173425.1:c.2290G>C	NP_001166896.1:p.Gly764Arg
NM_015404.3:c.2293G>C	NP_056219.3:p.Gly765Arg
XM_005251897.3:c.1630G>C	XP_005251954.2:p.Gly544Arg
XM_011518484.1:c.2326G>C	XP_011516786.1:p.Gly776Arg
XM_011518485.1:c.2326G>C	XP_011516787.1:p.Gly776Arg
XM_011518486.1:c.2323G>C	XP_011516788.1:p.Gly775Arg
XM_011518487.1:c.2200G>C	XP_011516789.1:p.Gly734Arg
XM_011518488.1:c.2083G>C	XP_011516790.1:p.Gly695Arg
XM_011518495.1:c.1003G>C	XP_011516797.1:p.Gly335Arg
XR_929747.1:n.3230G>C
XR_929748.1:n.3128G>C
NM_001346890.1:c.1240G>C	NP_001333819.1:p.Gly414Arg
XM_011518486.2:c.2323G>C	XP_011516788.1:p.Gly775Arg
XM_011518487.2:c.2200G>C	XP_011516789.1:p.Gly734Arg
XM_011518488.2:c.2083G>C	XP_011516790.1:p.Gly695Arg
XR_929747.2:n.2541G>C
XR_929748.2:n.2439G>C
NM_015404.4:c.2293G>C MANE Select	NP_056219.3:p.Gly765Arg
NM_001173425.2:c.2290G>C	NP_001166896.1:p.Gly764Arg
NM_001083885.3:c.1144G>C	NP_001077354.2:p.Gly382Arg