Canonical Allele Identifier: CA3563610

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 468248
• ClinVar RCV Id: RCV000532333 ; RCV000617437
• dbSNP Id: rs569535312
• ExAC: 5:172659658 C / A
• gnomAD v2: 5-172659658-C-A
• gnomAD v3: 5-173232655-C-A
• gnomAD v4: 5-173232655-C-A
• COSMIC: COSM1259157
• MyVariant Identifiers: chr5:g.172659658C>A (hg19) ; chr5:g.173232655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232655C>A , CM000667.2:g.173232655C>A	GRCh38
NC_000005.9:g.172659658C>A , CM000667.1:g.172659658C>A	GRCh37
NC_000005.8:g.172592264C>A	NCBI36
NG_013340.1:g.7658G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.889G>T MANE Select	ENSP00000327758.4:p.Val297Phe
ENST00000329198.4:c.889G>T	ENSP00000327758.4:p.Val297Phe
NM_001166175.1:c.*842G>T	NP_001159647.1:n.*842G>T
NM_001166176.1:c.*688G>T	NP_001159648.1:n.*688G>T
NM_004387.3:c.889G>T	NP_004378.1:p.Val297Phe
NM_004387.4:c.889G>T MANE Select	NP_004378.1:p.Val297Phe
NM_001166175.2:c.*842G>T	NP_001159647.1:n.*842G>T
NM_001166176.2:c.*688G>T	NP_001159648.1:n.*688G>T