Canonical Allele Identifier: CA2580073301

Gene: NNT

Linked Data

• ClinVar Variation Id: 2421790
• ClinVar RCV Id: RCV003116091
• gnomAD v4: 5-43619126-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.43619126A>G , CM000667.2:g.43619126A>G	GRCh38
NC_000005.9:g.43619228A>G , CM000667.1:g.43619228A>G	GRCh37
NC_000005.8:g.43654985A>G	NCBI36
NG_032869.1:g.21438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344920.9:c.687+7A>G MANE Select	ENSP00000343873.4:n.687+7A>G
ENST00000652986.1:c.632+7A>G	ENSP00000499801.1:n.632+7A>G
ENST00000653251.1:c.687+7A>G	ENSP00000499281.1:n.687+7A>G
ENST00000654405.1:c.599+3061A>G	ENSP00000499670.1:n.599+3061A>G
ENST00000654931.1:c.*549+7A>G	ENSP00000499477.1:n.*549+7A>G
ENST00000656666.1:c.687+7A>G	ENSP00000499249.1:n.687+7A>G
ENST00000657172.1:c.294+7A>G	ENSP00000499431.1:n.294+7A>G
ENST00000657973.1:c.*286+7A>G	ENSP00000499581.1:n.*286+7A>G
ENST00000658729.1:c.599+3061A>G	ENSP00000499331.1:n.599+3061A>G
ENST00000660676.1:c.687+7A>G	ENSP00000499491.1:n.687+7A>G
ENST00000660752.1:c.687+7A>G	ENSP00000499701.1:n.687+7A>G
ENST00000662525.1:c.687+7A>G	ENSP00000499639.1:n.687+7A>G
ENST00000669601.1:c.687+7A>G	ENSP00000499527.1:n.687+7A>G
ENST00000670904.1:c.687+7A>G	ENSP00000499611.1:n.687+7A>G
ENST00000671668.1:c.687+7A>G	ENSP00000499494.1:n.687+7A>G
ENST00000264663.9:c.687+7A>G	ENSP00000264663.5:n.687+7A>G
ENST00000344920.8:c.687+7A>G	ENSP00000343873.4:n.687+7A>G
ENST00000512996.6:c.294+7A>G	ENSP00000426343.1:n.294+7A>G
NM_012343.3:c.687+7A>G	NP_036475.3:n.687+7A>G
NM_182977.2:c.687+7A>G	NP_892022.2:n.687+7A>G
XM_005248274.3:c.687+7A>G	XP_005248331.1:n.687+7A>G
XM_006714461.2:c.294+7A>G	XP_006714524.1:n.294+7A>G
XM_011514001.1:c.687+7A>G	XP_011512303.1:n.687+7A>G
XM_011514002.1:c.294+7A>G	XP_011512304.1:n.294+7A>G
NM_001331026.1:c.294+7A>G	NP_001317955.1:n.294+7A>G
XM_005248274.5:c.687+7A>G	XP_005248331.1:n.687+7A>G
XM_006714461.4:c.294+7A>G	XP_006714524.1:n.294+7A>G
XM_011514001.3:c.687+7A>G	XP_011512303.1:n.687+7A>G
XM_017009293.2:c.687+7A>G	XP_016864782.1:n.687+7A>G
XM_024446009.1:c.-2037+7A>G	XP_024301777.1:n.-2037+7A>G
NM_182977.3:c.687+7A>G MANE Select	NP_892022.2:n.687+7A>G
NM_001331026.2:c.294+7A>G	NP_001317955.1:n.294+7A>G
NM_012343.4:c.687+7A>G	NP_036475.3:n.687+7A>G