Canonical Allele Identifier: CA3563592

Gene: NKX2-5

Linked Data

• dbSNP Id: rs200152391
• ExAC: 5:172659606 C / G
• gnomAD v2: 5-172659606-C-G
• gnomAD v3: 5-173232603-C-G
• gnomAD v4: 5-173232603-C-G
• MyVariant Identifiers: chr5:g.172659606C>G (hg19) ; chr5:g.173232603C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232603C>G , CM000667.2:g.173232603C>G	GRCh38
NC_000005.9:g.172659606C>G , CM000667.1:g.172659606C>G	GRCh37
NC_000005.8:g.172592212C>G	NCBI36
NG_013340.1:g.7710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.941G>C MANE Select	ENSP00000327758.4:p.Gly314Ala
ENST00000329198.4:c.941G>C	ENSP00000327758.4:p.Gly314Ala
NM_001166175.1:c.*894G>C	NP_001159647.1:n.*894G>C
NM_001166176.1:c.*740G>C	NP_001159648.1:n.*740G>C
NM_004387.3:c.941G>C	NP_004378.1:p.Gly314Ala
NM_004387.4:c.941G>C MANE Select	NP_004378.1:p.Gly314Ala
NM_001166175.2:c.*894G>C	NP_001159647.1:n.*894G>C
NM_001166176.2:c.*740G>C	NP_001159648.1:n.*740G>C