Canonical Allele Identifier: CA036741
Gene: RET HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.43114596A>C
GRCh37 chr10:g.43610044A>C
Revel Score:
ENST00000355710 (MANE Select) 0.663
ENST00000340058 0.663
gnomAD v2:
10:43610044 A / C
gnomAD v4:
chr10-43114596-A-C
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV001349419
RCV002420753
ClinVar Variation:
1045072
dbSNP:
143795581
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114596A>C , CM000672.2:g.43114596A>C GRCh38
NC_000010.10:g.43610044A>C , CM000672.1:g.43610044A>C GRCh37
NC_000010.9:g.42930050A>C NCBI36
NG_007489.1:g.42528A>C , LRG_518:g.42528A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.1600A>C ENSP00000480088.2:p.Lys534Gln
ENST00000683007.1:n.1570A>C
ENST00000683872.1:n.1561A>C
ENST00000340058.6:c.1996A>C ENSP00000344798.4:p.Lys666Gln
ENST00000355710.8:c.1996A>C MANE Select ENSP00000347942.3:p.Lys666Gln
ENST00000671844.1:c.*590A>C ENSP00000500541.1:n.*590A>C
ENST00000672389.1:c.*590A>C ENSP00000500252.1:n.*590A>C
ENST00000340058.5:c.1996A>C ENSP00000344798.4:p.Lys666Gln
ENST00000355710.7:c.1996A>C ENSP00000347942.3:p.Lys666Gln
ENST00000615310.4:c.1289+3364A>C ENSP00000480088.1:n.1289+3364A>C
NM_020630.4:c.1996A>C , LRG_518t2:c.1996A>C NP_065681.1:p.Lys666Gln
NM_020975.4:c.1996A>C , LRG_518t1:c.1996A>C NP_066124.1:p.Lys666Gln
XM_011540027.1:c.1996A>C XP_011538329.1:p.Lys666Gln
NM_001355216.1:c.1234A>C NP_001342145.1:p.Lys412Gln
NM_020630.5:c.1996A>C NP_065681.1:p.Lys666Gln
NM_020975.5:c.1996A>C NP_066124.1:p.Lys666Gln
NM_020975.6:c.1996A>C MANE Select NP_066124.1:p.Lys666Gln
NM_020630.6:c.1996A>C NP_065681.1:p.Lys666Gln
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