Canonical Allele Identifier: CA3563856

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1202747
• ClinVar RCV Id: RCV001568549 ; RCV002573205
• dbSNP Id: rs554604572
• ExAC: 5:172662027 C / G
• gnomAD v2: 5-172662027-C-G
• gnomAD v3: 5-173235024-C-G
• gnomAD v4: 5-173235024-C-G
• MyVariant Identifiers: chr5:g.172662027C>G (hg19) ; chr5:g.173235024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235024C>G , CM000667.2:g.173235024C>G	GRCh38
NC_000005.9:g.172662027C>G , CM000667.1:g.172662027C>G	GRCh37
NC_000005.8:g.172594633C>G	NCBI36
NG_013340.1:g.5289G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.60G>C MANE Select	ENSP00000327758.4:p.Leu20=
ENST00000329198.4:c.60G>C	ENSP00000327758.4:p.Leu20=
ENST00000424406.2:c.60G>C	ENSP00000395378.2:p.Leu20=
ENST00000517440.1:c.60G>C	ENSP00000429905.1:p.Leu20=
ENST00000521848.1:c.60G>C	ENSP00000427906.1:p.Leu20=
NM_001166175.1:c.60G>C	NP_001159647.1:p.Leu20=
NM_001166176.1:c.60G>C	NP_001159648.1:p.Leu20=
NM_004387.3:c.60G>C	NP_004378.1:p.Leu20=
XM_017009071.2:c.60G>C	XP_016864560.1:p.Leu20=
NM_004387.4:c.60G>C MANE Select	NP_004378.1:p.Leu20=
NM_001166175.2:c.60G>C	NP_001159647.1:p.Leu20=
NM_001166176.2:c.60G>C	NP_001159648.1:p.Leu20=