Canonical Allele Identifier: CA14235649
Gene: RAB40C HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.611335T>C , CM000678.2:g.611335T>C GRCh38
NC_000016.9:g.661335T>C , CM000678.1:g.661335T>C GRCh37
NC_000016.8:g.601336T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000248139.8:c.143-5873T>C MANE Select ENSP00000248139.3:n.143-5873T>C
ENST00000248139.7:c.143-5873T>C ENSP00000248139.3:n.143-5873T>C
ENST00000509637.6:c.271-5873T>C
ENST00000535977.5:c.143-5873T>C ENSP00000438492.1:n.143-5873T>C
ENST00000538492.5:c.143-5873T>C ENSP00000438382.1:n.143-5873T>C
ENST00000539661.5:c.143-5873T>C ENSP00000445050.1:n.143-5873T>C
ENST00000563109.1:c.103-5873T>C
ENST00000565511.5:c.143-5873T>C ENSP00000457845.1:n.143-5873T>C
ENST00000566290.5:c.143-5873T>C ENSP00000455029.1:n.143-5873T>C
ENST00000568586.5:c.143-5873T>C ENSP00000457116.1:n.143-5873T>C
ENST00000569575.5:c.143-5873T>C ENSP00000454347.1:n.143-5873T>C
NM_001172663.1:c.143-5873T>C NP_001166134.1:n.143-5873T>C
NM_001172664.1:c.143-5873T>C NP_001166135.1:n.143-5873T>C
NM_001172665.1:c.143-5873T>C NP_001166136.1:n.143-5873T>C
NM_001172666.1:c.143-5873T>C NP_001166137.1:n.143-5873T>C
NM_021168.4:c.143-5873T>C NP_066991.3:n.143-5873T>C
NM_021168.5:c.143-5873T>C MANE Select NP_066991.3:n.143-5873T>C
NM_001172666.2:c.143-5873T>C NP_001166137.1:n.143-5873T>C
NM_001172663.2:c.143-5873T>C NP_001166134.1:n.143-5873T>C
NM_001172664.2:c.143-5873T>C NP_001166135.1:n.143-5873T>C
NM_001172665.2:c.143-5873T>C NP_001166136.1:n.143-5873T>C