Canonical Allele Identifier: CA008702

Gene: RET

Linked Data

• ClinVar Variation Id: 13935
• ClinVar RCV Id: RCV000014960 ; RCV000014961 ; RCV000021849 ; RCV000182583 ; RCV002453262
• dbSNP Id: rs75030001
• ExAC: 10:43613906 G / C
• gnomAD v2: 10-43613906-G-C
• gnomAD v4: 10-43118458-G-C
• MyVariant Identifiers: chr10:g.43613906G>C (hg19) ; chr10:g.43118458G>C (hg38)
• PubMed: PMID:9 ; PMID:146 ; PMID:163 ; PMID:410 ; PMID:506 ; PMID:724 ; PMID:9506724

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43118458G>C , CM000672.2:g.43118458G>C	GRCh38
NC_000010.10:g.43613906G>C , CM000672.1:g.43613906G>C	GRCh37
NC_000010.9:g.42933912G>C	NCBI36
NG_007489.1:g.46390G>C , LRG_518:g.46390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1974G>C	ENSP00000480088.2:p.Leu658Phe
ENST00000683007.1:n.1944G>C
ENST00000683872.1:n.1935G>C
ENST00000340058.6:c.2370G>C	ENSP00000344798.4:p.Leu790Phe
ENST00000355710.8:c.2370G>C MANE Select	ENSP00000347942.3:p.Leu790Phe
ENST00000671844.1:c.*964G>C	ENSP00000500541.1:n.*964G>C
ENST00000672389.1:c.*964G>C	ENSP00000500252.1:n.*964G>C
ENST00000340058.5:c.2370G>C	ENSP00000344798.4:p.Leu790Phe
ENST00000355710.7:c.2370G>C	ENSP00000347942.3:p.Leu790Phe
ENST00000615310.4:c.1290-1244G>C	ENSP00000480088.1:n.1290-1244G>C
NM_020630.4:c.2370G>C , LRG_518t2:c.2370G>C	NP_065681.1:p.Leu790Phe
NM_020975.4:c.2370G>C , LRG_518t1:c.2370G>C	NP_066124.1:p.Leu790Phe
XM_011540027.1:c.2370G>C	XP_011538329.1:p.Leu790Phe
NM_001355216.1:c.1608G>C	NP_001342145.1:p.Leu536Phe
NM_020630.5:c.2370G>C	NP_065681.1:p.Leu790Phe
NM_020975.5:c.2370G>C	NP_066124.1:p.Leu790Phe
NM_020975.6:c.2370G>C MANE Select	NP_066124.1:p.Leu790Phe
NM_020630.6:c.2370G>C	NP_065681.1:p.Leu790Phe