Canonical Allele Identifier: CA258879135
Gene: NKX2-1 HGNC NCBI
NKX2-1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.36520214C>G
GRCh37 chr14:g.36989419C>G
gnomAD v2:
14:36989419 C / G
gnomAD v3:
14:36520214 C / G
gnomAD v4:
chr14-36520214-C-G
Joint Max Group AF 0.00022243 (NFE)
Genomes Max Group AF 0.00013496 (NFE)
Exomes Max Group AF 0.00022343 (NFE)
dbSNP:
2076751
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36520214C>G , CM000676.2:g.36520214C>G GRCh38
NC_000014.8:g.36989419C>G , CM000676.1:g.36989419C>G GRCh37
NC_000014.7:g.36059170C>G NCBI36
NG_013365.1:g.5012G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000522719.4:c.-320G>C (NKX2-1) ENSP00000429519.4:n.-320G>C
ENST00000354822.7:c.-85G>C (NKX2-1) MANE Select ENSP00000346879.6:n.-85G>C
ENST00000522719.3:c.-85G>C (NKX2-1) ENSP00000429519.3:n.-85G>C
ENST00000546983.2:c.-14+343G>C ENSP00000449302.2:n.-14+343G>C
ENST00000354822.6:c.-85G>C (NKX2-1) ENSP00000346879.5:n.-85G>C
ENST00000518149.5:c.-14+343G>C (NKX2-1) ENSP00000428341.1:n.-14+343G>C
ENST00000546983.1:c.-85G>C (NKX2-1) ENSP00000449302.1:n.-85G>C
NM_001079668.2:c.-85G>C (NKX2-1) NP_001073136.1:n.-85G>C
NR_103710.1:n.402+535C>G (NKX2-1-AS1)
NM_001079668.3:c.-85G>C (NKX2-1) MANE Select NP_001073136.1:n.-85G>C
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