Canonical Allele Identifier: CA374620346

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117168793G>C (hg19) ; chr9:g.114406513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406513G>C , CM000671.2:g.114406513G>C	GRCh38
NC_000009.11:g.117168793G>C , CM000671.1:g.117168793G>C	GRCh37
NC_000009.10:g.116208614G>C	NCBI36
NG_016700.1:g.103944C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.422C>G	ENSP00000514396.1:p.Ser141Cys
ENST00000362057.4:c.2078C>G MANE Select	ENSP00000354623.3:p.Ser693Cys
ENST00000674036.8:c.1051C>G
ENST00000674048.1:n.1959C>G
ENST00000265134.10:c.929C>G	ENSP00000265134.6:p.Ser310Cys
ENST00000362057.3:c.2078C>G	ENSP00000354623.3:p.Ser693Cys
ENST00000374059.7:c.1025C>G	ENSP00000363172.3:p.Ser342Cys
NM_001083885.2:c.929C>G	NP_001077354.2:p.Ser310Cys
NM_001173425.1:c.2078C>G	NP_001166896.1:p.Ser693Cys
NM_015404.3:c.2078C>G	NP_056219.3:p.Ser693Cys
XM_005251897.3:c.1415C>G	XP_005251954.2:p.Ser472Cys
XM_011518484.1:c.2111C>G	XP_011516786.1:p.Ser704Cys
XM_011518485.1:c.2111C>G	XP_011516787.1:p.Ser704Cys
XM_011518486.1:c.2111C>G	XP_011516788.1:p.Ser704Cys
XM_011518487.1:c.1985C>G	XP_011516789.1:p.Ser662Cys
XM_011518488.1:c.1868C>G	XP_011516790.1:p.Ser623Cys
XM_011518495.1:c.788C>G	XP_011516797.1:p.Ser263Cys
XR_929747.1:n.3015C>G
XR_929748.1:n.2913C>G
NM_001346890.1:c.1025C>G	NP_001333819.1:p.Ser342Cys
XM_011518486.2:c.2111C>G	XP_011516788.1:p.Ser704Cys
XM_011518487.2:c.1985C>G	XP_011516789.1:p.Ser662Cys
XM_011518488.2:c.1868C>G	XP_011516790.1:p.Ser623Cys
XR_929747.2:n.2326C>G
XR_929748.2:n.2224C>G
NM_015404.4:c.2078C>G MANE Select	NP_056219.3:p.Ser693Cys
NM_001173425.2:c.2078C>G	NP_001166896.1:p.Ser693Cys
NM_001083885.3:c.929C>G	NP_001077354.2:p.Ser310Cys