Canonical Allele Identifier: CA068501

Gene: TRPM4

Linked Data

• ClinVar Variation Id: 222855
• ClinVar RCV Id: RCV000208097 ; RCV001853317 ; RCV003318369
• dbSNP Id: rs780954126
• MyVariant Identifiers: chr19:g.49713975C>G (hg19) ; chr19:g.49210718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49210718C>G , CM000681.2:g.49210718C>G	GRCh38
NC_000019.9:g.49713975C>G , CM000681.1:g.49713975C>G	GRCh37
NC_000019.8:g.54405787C>G	NCBI36
NG_027551.1:g.57960C>G
NG_027551.2:g.57960C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.3337C>G MANE Select	ENSP00000252826.4:p.Leu1113Val
ENST00000252826.9:c.3337C>G	ENSP00000252826.4:p.Leu1113Val
ENST00000427978.6:c.2902C>G	ENSP00000407492.1:p.Leu968Val
ENST00000595071.5:n.2301C>G
ENST00000595519.5:c.*2747C>G	ENSP00000469893.1:n.*2747C>G
ENST00000596338.5:n.3434C>G
ENST00000598502.5:c.*2450C>G	ENSP00000470229.1:n.*2450C>G
ENST00000598697.5:c.*2292C>G	ENSP00000468989.1:n.*2292C>G
ENST00000599459.1:n.118C>G
NM_001195227.1:c.2902C>G	NP_001182156.1:p.Leu968Val
NM_017636.3:c.3337C>G	NP_060106.2:p.Leu1113Val
XM_005259017.1:c.2050C>G	XP_005259074.1:p.Leu684Val
XM_005259018.2:c.1729C>G	XP_005259075.1:p.Leu577Val
XM_011527046.1:c.2815C>G	XP_011525348.1:p.Leu939Val
NM_001321281.1:c.2992C>G	NP_001308210.1:p.Leu998Val
NM_001321282.1:c.1729C>G	NP_001308211.1:p.Leu577Val
NM_001321283.1:c.2815C>G	NP_001308212.1:p.Leu939Val
NM_001321285.1:c.2275C>G	NP_001308214.1:p.Leu759Val
XM_024451557.1:c.1363C>G	XP_024307325.1:p.Leu455Val
NM_017636.4:c.3337C>G MANE Select	NP_060106.2:p.Leu1113Val
NM_001195227.2:c.2902C>G	NP_001182156.1:p.Leu968Val
NM_001321281.2:c.2992C>G	NP_001308210.1:p.Leu998Val
NM_001321282.2:c.1729C>G	NP_001308211.1:p.Leu577Val
NM_001321283.2:c.2815C>G	NP_001308212.1:p.Leu939Val
NM_001321285.2:c.2275C>G	NP_001308214.1:p.Leu759Val