Canonical Allele Identifier: CA362163790

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1176053334
• gnomAD v2: 5-172662038-T-C
• gnomAD v4: 5-173235035-T-C
• MyVariant Identifiers: chr5:g.172662038T>C (hg19) ; chr5:g.173235035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235035T>C , CM000667.2:g.173235035T>C	GRCh38
NC_000005.9:g.172662038T>C , CM000667.1:g.172662038T>C	GRCh37
NC_000005.8:g.172594644T>C	NCBI36
NG_013340.1:g.5278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.49A>G MANE Select	ENSP00000327758.4:p.Ile17Val
ENST00000329198.4:c.49A>G	ENSP00000327758.4:p.Ile17Val
ENST00000424406.2:c.49A>G	ENSP00000395378.2:p.Ile17Val
ENST00000517440.1:c.49A>G	ENSP00000429905.1:p.Ile17Val
ENST00000521848.1:c.49A>G	ENSP00000427906.1:p.Ile17Val
NM_001166175.1:c.49A>G	NP_001159647.1:p.Ile17Val
NM_001166176.1:c.49A>G	NP_001159648.1:p.Ile17Val
NM_004387.3:c.49A>G	NP_004378.1:p.Ile17Val
XM_017009071.2:c.49A>G	XP_016864560.1:p.Ile17Val
NM_004387.4:c.49A>G MANE Select	NP_004378.1:p.Ile17Val
NM_001166175.2:c.49A>G	NP_001159647.1:p.Ile17Val
NM_001166176.2:c.49A>G	NP_001159648.1:p.Ile17Val