Canonical Allele Identifier: CA447975034

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1290304822
• gnomAD v2: 5-172660010-G-A
• gnomAD v4: 5-173233007-G-A
• MyVariant Identifiers: chr5:g.172660010G>A (hg19) ; chr5:g.173233007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233007G>A , CM000667.2:g.173233007G>A	GRCh38
NC_000005.9:g.172660010G>A , CM000667.1:g.172660010G>A	GRCh37
NC_000005.8:g.172592616G>A	NCBI36
NG_013340.1:g.7306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.537C>T MANE Select	ENSP00000327758.4:p.Ser179=
ENST00000329198.4:c.537C>T	ENSP00000327758.4:p.Ser179=
ENST00000424406.2:c.*490C>T	ENSP00000395378.2:n.*490C>T
ENST00000521848.1:c.*336C>T	ENSP00000427906.1:n.*336C>T
NM_001166175.1:c.*490C>T	NP_001159647.1:n.*490C>T
NM_001166176.1:c.*336C>T	NP_001159648.1:n.*336C>T
NM_004387.3:c.537C>T	NP_004378.1:p.Ser179=
NM_004387.4:c.537C>T MANE Select	NP_004378.1:p.Ser179=
NM_001166175.2:c.*490C>T	NP_001159647.1:n.*490C>T
NM_001166176.2:c.*336C>T	NP_001159648.1:n.*336C>T