Canonical Allele Identifier: CA132258782

Gene: NKX2-5

Linked Data

• dbSNP Id: rs538010963
• gnomAD v3: 5-173232668-G-C
• gnomAD v4: 5-173232668-G-C
• MyVariant Identifiers: chr5:g.172659671G>C (hg19) ; chr5:g.173232668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232668G>C , CM000667.2:g.173232668G>C	GRCh38
NC_000005.9:g.172659671G>C , CM000667.1:g.172659671G>C	GRCh37
NC_000005.8:g.172592277G>C	NCBI36
NG_013340.1:g.7645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.876C>G MANE Select	ENSP00000327758.4:p.Phe292Leu
ENST00000329198.4:c.876C>G	ENSP00000327758.4:p.Phe292Leu
NM_001166175.1:c.*829C>G	NP_001159647.1:n.*829C>G
NM_001166176.1:c.*675C>G	NP_001159648.1:n.*675C>G
NM_004387.3:c.876C>G	NP_004378.1:p.Phe292Leu
NM_004387.4:c.876C>G MANE Select	NP_004378.1:p.Phe292Leu
NM_001166175.2:c.*829C>G	NP_001159647.1:n.*829C>G
NM_001166176.2:c.*675C>G	NP_001159648.1:n.*675C>G