Canonical Allele Identifier: CA3563815

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1514081
• ClinVar RCV Id: RCV002026496
• dbSNP Id: rs373807012
• ExAC: 5:172661830 A / G
• gnomAD v2: 5-172661830-A-G
• gnomAD v3: 5-173234827-A-G
• gnomAD v4: 5-173234827-A-G
• MyVariant Identifiers: chr5:g.172661830A>G (hg19) ; chr5:g.173234827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234827A>G , CM000667.2:g.173234827A>G	GRCh38
NC_000005.9:g.172661830A>G , CM000667.1:g.172661830A>G	GRCh37
NC_000005.8:g.172594436A>G	NCBI36
NG_013340.1:g.5486T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.257T>C MANE Select	ENSP00000327758.4:p.Phe86Ser
ENST00000329198.4:c.257T>C	ENSP00000327758.4:p.Phe86Ser
ENST00000424406.2:c.257T>C	ENSP00000395378.2:p.Phe86Ser
ENST00000517440.1:c.257T>C	ENSP00000429905.1:p.Phe86Ser
ENST00000521848.1:c.257T>C	ENSP00000427906.1:p.Phe86Ser
NM_001166175.1:c.257T>C	NP_001159647.1:p.Phe86Ser
NM_001166176.1:c.257T>C	NP_001159648.1:p.Phe86Ser
NM_004387.3:c.257T>C	NP_004378.1:p.Phe86Ser
XM_017009071.2:c.257T>C	XP_016864560.1:p.Phe86Ser
NM_004387.4:c.257T>C MANE Select	NP_004378.1:p.Phe86Ser
NM_001166175.2:c.257T>C	NP_001159647.1:p.Phe86Ser
NM_001166176.2:c.257T>C	NP_001159648.1:p.Phe86Ser