Canonical Allele Identifier: CA3563633

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1762312
• ClinVar RCV Id: RCV002427808 ; RCV003619784
• dbSNP Id: rs779089768
• ExAC: 5:172659730 C / G
• gnomAD v2: 5-172659730-C-G
• gnomAD v4: 5-173232727-C-G
• MyVariant Identifiers: chr5:g.172659730C>G (hg19) ; chr5:g.173232727C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232727C>G , CM000667.2:g.173232727C>G	GRCh38
NC_000005.9:g.172659730C>G , CM000667.1:g.172659730C>G	GRCh37
NC_000005.8:g.172592336C>G	NCBI36
NG_013340.1:g.7586G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.817G>C MANE Select	ENSP00000327758.4:p.Ala273Pro
ENST00000329198.4:c.817G>C	ENSP00000327758.4:p.Ala273Pro
NM_001166175.1:c.*770G>C	NP_001159647.1:n.*770G>C
NM_001166176.1:c.*616G>C	NP_001159648.1:n.*616G>C
NM_004387.3:c.817G>C	NP_004378.1:p.Ala273Pro
NM_004387.4:c.817G>C MANE Select	NP_004378.1:p.Ala273Pro
NM_001166175.2:c.*770G>C	NP_001159647.1:n.*770G>C
NM_001166176.2:c.*616G>C	NP_001159648.1:n.*616G>C