Canonical Allele Identifier: CA038411

Gene: RET

Linked Data

• ClinVar Variation Id: 215910
• ClinVar RCV Id: RCV000572176 ; RCV000679730 ; RCV000988345 ; RCV001081346
• dbSNP Id: rs777349208
• ExAC: 10:43613825 C / T
• gnomAD v2: 10-43613825-C-T
• gnomAD v3: 10-43118377-C-T
• gnomAD v4: 10-43118377-C-T
• COSMIC: COSM918121
• MyVariant Identifiers: chr10:g.43613825C>T (hg19) ; chr10:g.43118377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43118377C>T , CM000672.2:g.43118377C>T	GRCh38
NC_000010.10:g.43613825C>T , CM000672.1:g.43613825C>T	GRCh37
NC_000010.9:g.42933831C>T	NCBI36
NG_007489.1:g.46309C>T , LRG_518:g.46309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1893C>T	ENSP00000480088.2:p.Asn631=
ENST00000683007.1:n.1863C>T
ENST00000683872.1:n.1854C>T
ENST00000340058.6:c.2289C>T	ENSP00000344798.4:p.Asn763=
ENST00000355710.8:c.2289C>T MANE Select	ENSP00000347942.3:p.Asn763=
ENST00000671844.1:c.*883C>T	ENSP00000500541.1:n.*883C>T
ENST00000672389.1:c.*883C>T	ENSP00000500252.1:n.*883C>T
ENST00000340058.5:c.2289C>T	ENSP00000344798.4:p.Asn763=
ENST00000355710.7:c.2289C>T	ENSP00000347942.3:p.Asn763=
ENST00000615310.4:c.1290-1325C>T	ENSP00000480088.1:n.1290-1325C>T
NM_020630.4:c.2289C>T , LRG_518t2:c.2289C>T	NP_065681.1:p.Asn763=
NM_020975.4:c.2289C>T , LRG_518t1:c.2289C>T	NP_066124.1:p.Asn763=
XM_011540027.1:c.2289C>T	XP_011538329.1:p.Asn763=
NM_001355216.1:c.1527C>T	NP_001342145.1:p.Asn509=
NM_020630.5:c.2289C>T	NP_065681.1:p.Asn763=
NM_020975.5:c.2289C>T	NP_066124.1:p.Asn763=
NM_020975.6:c.2289C>T MANE Select	NP_066124.1:p.Asn763=
NM_020630.6:c.2289C>T	NP_065681.1:p.Asn763=