Canonical Allele Identifier: CA1084495496

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1222670692
• gnomAD v3: 5-173232373-G-A
• gnomAD v4: 5-173232373-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232373G>A , CM000667.2:g.173232373G>A	GRCh38
NC_000005.9:g.172659376G>A , CM000667.1:g.172659376G>A	GRCh37
NC_000005.8:g.172591982G>A	NCBI36
NG_013340.1:g.7940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*196C>T MANE Select	ENSP00000327758.4:n.*196C>T
ENST00000329198.4:c.*196C>T	ENSP00000327758.4:n.*196C>T
NM_001166175.1:c.*1124C>T	NP_001159647.1:n.*1124C>T
NM_001166176.1:c.*970C>T	NP_001159648.1:n.*970C>T
NM_004387.3:c.*196C>T	NP_004378.1:n.*196C>T
NM_004387.4:c.*196C>T MANE Select	NP_004378.1:n.*196C>T
NM_001166175.2:c.*1124C>T	NP_001159647.1:n.*1124C>T
NM_001166176.2:c.*970C>T	NP_001159648.1:n.*970C>T