Canonical Allele Identifier: CA258133168

Gene: NOVA1

Linked Data

• dbSNP Id: rs17111228
• gnomAD v2: 14-26913360-A-G
• gnomAD v3: 14-26444154-A-G
• gnomAD v4: 14-26444154-A-G
• MyVariant Identifiers: chr14:g.26913360A>G (hg19) ; chr14:g.26444154A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.26444154A>G , CM000676.2:g.26444154A>G	GRCh38
NC_000014.8:g.26913360A>G , CM000676.1:g.26913360A>G	GRCh37
NC_000014.7:g.25983200A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539517.7:c.*3805T>C MANE Select	ENSP00000438875.2:n.*3805T>C
ENST00000483536.6:c.*5065T>C	ENSP00000448956.1:n.*5065T>C
NM_001366390.1:c.*3805T>C	NP_001353319.1:n.*3805T>C
NM_001366391.1:c.*3805T>C	NP_001353320.1:n.*3805T>C
NM_001366392.1:c.*3805T>C	NP_001353321.1:n.*3805T>C
NM_001366393.1:c.*3805T>C	NP_001353322.1:n.*3805T>C
NM_001366394.1:c.*3805T>C	NP_001353323.1:n.*3805T>C
NM_001366395.1:c.*3805T>C	NP_001353324.1:n.*3805T>C
NM_001366396.1:c.*3805T>C	NP_001353325.1:n.*3805T>C
NM_001366397.1:c.*3805T>C	NP_001353326.1:n.*3805T>C
NM_001366398.1:c.*3805T>C	NP_001353327.1:n.*3805T>C
NM_002515.3:c.*3805T>C MANE Select	NP_002506.2:n.*3805T>C
NM_001366390.2:c.*3805T>C	NP_001353319.1:n.*3805T>C
NM_001366391.2:c.*3805T>C	NP_001353320.1:n.*3805T>C
NM_001366392.2:c.*3805T>C	NP_001353321.1:n.*3805T>C
NM_006489.3:c.*3805T>C	NP_006480.2:n.*3805T>C
NM_001366393.2:c.*3805T>C	NP_001353322.1:n.*3805T>C
NM_001366394.2:c.*3805T>C	NP_001353323.1:n.*3805T>C
NM_001366395.2:c.*3805T>C	NP_001353324.1:n.*3805T>C
NM_001366396.2:c.*3805T>C	NP_001353325.1:n.*3805T>C
NM_001366397.2:c.*3805T>C	NP_001353326.1:n.*3805T>C
NM_001366398.2:c.*3805T>C	NP_001353327.1:n.*3805T>C