Canonical Allele Identifier: CA374620119

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117168686G>A (hg19) ; chr9:g.114406406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406406G>A , CM000671.2:g.114406406G>A	GRCh38
NC_000009.11:g.117168686G>A , CM000671.1:g.117168686G>A	GRCh37
NC_000009.10:g.116208507G>A	NCBI36
NG_016700.1:g.104051C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.529C>T	ENSP00000514396.1:p.Pro177Ser
ENST00000362057.4:c.2185C>T MANE Select	ENSP00000354623.3:p.Pro729Ser
ENST00000674036.8:c.1158C>T
ENST00000674048.1:n.2066C>T
ENST00000265134.10:c.1036C>T	ENSP00000265134.6:p.Pro346Ser
ENST00000362057.3:c.2185C>T	ENSP00000354623.3:p.Pro729Ser
ENST00000374059.7:c.1132C>T	ENSP00000363172.3:p.Pro378Ser
NM_001083885.2:c.1036C>T	NP_001077354.2:p.Pro346Ser
NM_001173425.1:c.2185C>T	NP_001166896.1:p.Pro729Ser
NM_015404.3:c.2185C>T	NP_056219.3:p.Pro729Ser
XM_005251897.3:c.1522C>T	XP_005251954.2:p.Pro508Ser
XM_011518484.1:c.2218C>T	XP_011516786.1:p.Pro740Ser
XM_011518485.1:c.2218C>T	XP_011516787.1:p.Pro740Ser
XM_011518486.1:c.2218C>T	XP_011516788.1:p.Pro740Ser
XM_011518487.1:c.2092C>T	XP_011516789.1:p.Pro698Ser
XM_011518488.1:c.1975C>T	XP_011516790.1:p.Pro659Ser
XM_011518495.1:c.895C>T	XP_011516797.1:p.Pro299Ser
XR_929747.1:n.3122C>T
XR_929748.1:n.3020C>T
NM_001346890.1:c.1132C>T	NP_001333819.1:p.Pro378Ser
XM_011518486.2:c.2218C>T	XP_011516788.1:p.Pro740Ser
XM_011518487.2:c.2092C>T	XP_011516789.1:p.Pro698Ser
XM_011518488.2:c.1975C>T	XP_011516790.1:p.Pro659Ser
XR_929747.2:n.2433C>T
XR_929748.2:n.2331C>T
NM_015404.4:c.2185C>T MANE Select	NP_056219.3:p.Pro729Ser
NM_001173425.2:c.2185C>T	NP_001166896.1:p.Pro729Ser
NM_001083885.3:c.1036C>T	NP_001077354.2:p.Pro346Ser