Canonical Allele Identifier: CA376556175

Gene: RET

Linked Data

• ClinVar Variation Id: 945018
• ClinVar RCV Id: RCV001215544
• dbSNP Id: rs1838156276
• gnomAD v4: 10-43119581-T-C
• MyVariant Identifiers: chr10:g.43615029T>C (hg19) ; chr10:g.43119581T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119581T>C , CM000672.2:g.43119581T>C	GRCh38
NC_000010.10:g.43615029T>C , CM000672.1:g.43615029T>C	GRCh37
NC_000010.9:g.42935035T>C	NCBI36
NG_007489.1:g.47513T>C , LRG_518:g.47513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2047T>C	ENSP00000480088.2:p.Phe683Leu
ENST00000683007.1:n.2017T>C
ENST00000683872.1:n.2008T>C
ENST00000340058.6:c.2443T>C	ENSP00000344798.4:p.Phe815Leu
ENST00000355710.8:c.2443T>C MANE Select	ENSP00000347942.3:p.Phe815Leu
ENST00000671844.1:c.*1037T>C	ENSP00000500541.1:n.*1037T>C
ENST00000672389.1:c.*1037T>C	ENSP00000500252.1:n.*1037T>C
ENST00000340058.5:c.2443T>C	ENSP00000344798.4:p.Phe815Leu
ENST00000355710.7:c.2443T>C	ENSP00000347942.3:p.Phe815Leu
ENST00000615310.4:c.1290-121T>C	ENSP00000480088.1:n.1290-121T>C
NM_020630.4:c.2443T>C , LRG_518t2:c.2443T>C	NP_065681.1:p.Phe815Leu
NM_020975.4:c.2443T>C , LRG_518t1:c.2443T>C	NP_066124.1:p.Phe815Leu
XM_011540027.1:c.2443T>C	XP_011538329.1:p.Phe815Leu
NM_001355216.1:c.1681T>C	NP_001342145.1:p.Phe561Leu
NM_020630.5:c.2443T>C	NP_065681.1:p.Phe815Leu
NM_020975.5:c.2443T>C	NP_066124.1:p.Phe815Leu
NM_020975.6:c.2443T>C MANE Select	NP_066124.1:p.Phe815Leu
NM_020630.6:c.2443T>C	NP_065681.1:p.Phe815Leu