Canonical Allele Identifier: CA9568636
Gene: TRPM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 389832
ClinVar RCV Id: RCV001700114
dbSNP Id: rs767900879

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49157896C>G , CM000681.2:g.49157896C>G GRCh38
NC_000019.9:g.49661153C>G , CM000681.1:g.49661153C>G GRCh37
NC_000019.8:g.54352965C>G NCBI36
NG_027551.1:g.5138C>G
NG_027551.2:g.5138C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252826.10:c.24+6C>G MANE Select ENSP00000252826.4:n.24+6C>G
ENST00000252826.9:c.24+6C>G ENSP00000252826.4:n.24+6C>G
ENST00000427978.6:c.24+6C>G ENSP00000407492.1:n.24+6C>G
ENST00000595519.5:c.24+6C>G ENSP00000469893.1:n.24+6C>G
ENST00000596338.5:n.59+6C>G
ENST00000598502.5:c.24+6C>G ENSP00000470229.1:n.24+6C>G
ENST00000598691.5:c.24+6C>G ENSP00000473231.1:n.24+6C>G
ENST00000598697.5:c.24+6C>G ENSP00000468989.1:n.24+6C>G
ENST00000599628.5:c.24+6C>G ENSP00000483753.1:n.24+6C>G
NM_001195227.1:c.24+6C>G NP_001182156.1:n.24+6C>G
NM_017636.3:c.24+6C>G NP_060106.2:n.24+6C>G
XM_011527046.1:c.-143+6C>G XP_011525348.1:n.-143+6C>G
NM_001321281.1:c.24+6C>G NP_001308210.1:n.24+6C>G
NM_001321282.1:c.-1349+6C>G NP_001308211.1:n.-1349+6C>G
NM_001321283.1:c.-143+6C>G NP_001308212.1:n.-143+6C>G
NM_001321285.1:c.-306+6C>G NP_001308214.1:n.-306+6C>G
NM_017636.4:c.24+6C>G MANE Select NP_060106.2:n.24+6C>G
NM_001195227.2:c.24+6C>G NP_001182156.1:n.24+6C>G
NM_001321281.2:c.24+6C>G NP_001308210.1:n.24+6C>G
NM_001321282.2:c.-1349+6C>G NP_001308211.1:n.-1349+6C>G
NM_001321283.2:c.-143+6C>G NP_001308212.1:n.-143+6C>G
NM_001321285.2:c.-306+6C>G NP_001308214.1:n.-306+6C>G