Canonical Allele Identifier: CA362163823

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1363368305
• gnomAD v2: 5-172662053-A-C
• gnomAD v4: 5-173235050-A-C
• MyVariant Identifiers: chr5:g.172662053A>C (hg19) ; chr5:g.173235050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235050A>C , CM000667.2:g.173235050A>C	GRCh38
NC_000005.9:g.172662053A>C , CM000667.1:g.172662053A>C	GRCh37
NC_000005.8:g.172594659A>C	NCBI36
NG_013340.1:g.5263T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.34T>G MANE Select	ENSP00000327758.4:p.Phe12Val
ENST00000329198.4:c.34T>G	ENSP00000327758.4:p.Phe12Val
ENST00000424406.2:c.34T>G	ENSP00000395378.2:p.Phe12Val
ENST00000517440.1:c.34T>G	ENSP00000429905.1:p.Phe12Val
ENST00000521848.1:c.34T>G	ENSP00000427906.1:p.Phe12Val
NM_001166175.1:c.34T>G	NP_001159647.1:p.Phe12Val
NM_001166176.1:c.34T>G	NP_001159648.1:p.Phe12Val
NM_004387.3:c.34T>G	NP_004378.1:p.Phe12Val
XM_017009071.2:c.34T>G	XP_016864560.1:p.Phe12Val
NM_004387.4:c.34T>G MANE Select	NP_004378.1:p.Phe12Val
NM_001166175.2:c.34T>G	NP_001159647.1:p.Phe12Val
NM_001166176.2:c.34T>G	NP_001159648.1:p.Phe12Val