Canonical Allele Identifier: CA508282969
Community Standard Title: NM_017636.4(TRPM4):c.2424G>A (p.Ala808=)
Gene: TRPM4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49196653G>A , CM000681.2:g.49196653G>A GRCh38
NC_000019.9:g.49699910G>A , CM000681.1:g.49699910G>A GRCh37
NC_000019.8:g.54391722G>A NCBI36
NG_027551.1:g.43895G>A
NG_027551.2:g.43895G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017636.4:c.2424G>A MANE Select NP_060106.2:p.Ala808=
ENST00000252826.10:c.2424G>A MANE Select ENSP00000252826.4:p.Ala808=
NM_001195227.1:c.2211-3647G>A NP_001182156.1:n.2211-3647G>A
NM_001195227.2:c.2211-3647G>A NP_001182156.1:n.2211-3647G>A
NM_001321281.1:c.2079G>A NP_001308210.1:p.Ala693=
NM_001321281.2:c.2079G>A NP_001308210.1:p.Ala693=
NM_001321282.1:c.816G>A NP_001308211.1:p.Ala272=
NM_001321282.2:c.816G>A NP_001308211.1:p.Ala272=
NM_001321283.1:c.1902G>A NP_001308212.1:p.Ala634=
NM_001321283.2:c.1902G>A NP_001308212.1:p.Ala634=
NM_001321285.1:c.1362G>A NP_001308214.1:p.Ala454=
NM_001321285.2:c.1362G>A NP_001308214.1:p.Ala454=
NM_017636.3:c.2424G>A NP_060106.2:p.Ala808=
ENST00000252826.9:c.2424G>A ENSP00000252826.4:p.Ala808=
ENST00000427978.6:c.2211-3647G>A ENSP00000407492.1:n.2211-3647G>A
ENST00000595071.5:n.1388G>A
ENST00000595519.5:c.*1834G>A ENSP00000469893.1:n.*1834G>A
ENST00000595882.1:n.516G>A
ENST00000596338.5:n.2521G>A
ENST00000598502.5:c.*1537G>A ENSP00000470229.1:n.*1537G>A
ENST00000598697.5:c.*1379G>A ENSP00000468989.1:n.*1379G>A
XM_005259017.1:c.1137G>A XP_005259074.1:p.Ala379=
XM_005259018.2:c.816G>A XP_005259075.1:p.Ala272=
XM_011527046.1:c.1902G>A XP_011525348.1:p.Ala634=
XM_024451557.1:c.450G>A XP_024307325.1:p.Ala150=