Canonical Allele Identifier: CA2201151781

Gene: RAB40C

Linked Data

• dbSNP Id: rs763014

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.625680T>G , CM000678.2:g.625680T>G	GRCh38
NC_000016.9:g.675680T>G , CM000678.1:g.675680T>G	GRCh37
NC_000016.8:g.615681T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000248139.8:c.342+171T>G MANE Select	ENSP00000248139.3:n.342+171T>G
ENST00000248139.7:c.342+171T>G	ENSP00000248139.3:n.342+171T>G
ENST00000509637.6:c.470+171T>G
ENST00000535977.5:c.342+171T>G	ENSP00000438492.1:n.342+171T>G
ENST00000538492.5:c.342+171T>G	ENSP00000438382.1:n.342+171T>G
ENST00000539661.5:c.342+171T>G	ENSP00000445050.1:n.342+171T>G
ENST00000561781.1:n.67T>G
ENST00000563109.1:c.302+171T>G
ENST00000564703.1:c.-106+171T>G	ENSP00000454383.1:n.-106+171T>G
ENST00000565511.5:c.*155+171T>G	ENSP00000457845.1:n.*155+171T>G
ENST00000566290.5:c.342+171T>G	ENSP00000455029.1:n.342+171T>G
ENST00000568586.5:c.342+171T>G	ENSP00000457116.1:n.342+171T>G
ENST00000569575.5:c.342+171T>G	ENSP00000454347.1:n.342+171T>G
NM_001172663.1:c.342+171T>G	NP_001166134.1:n.342+171T>G
NM_001172664.1:c.342+171T>G	NP_001166135.1:n.342+171T>G
NM_001172665.1:c.342+171T>G	NP_001166136.1:n.342+171T>G
NM_001172666.1:c.342+171T>G	NP_001166137.1:n.342+171T>G
NM_021168.4:c.342+171T>G	NP_066991.3:n.342+171T>G
NM_021168.5:c.342+171T>G MANE Select	NP_066991.3:n.342+171T>G
NM_001172666.2:c.342+171T>G	NP_001166137.1:n.342+171T>G
NM_001172663.2:c.342+171T>G	NP_001166134.1:n.342+171T>G
NM_001172664.2:c.342+171T>G	NP_001166135.1:n.342+171T>G
NM_001172665.2:c.342+171T>G	NP_001166136.1:n.342+171T>G