Canonical Allele Identifier: CA3563693

Gene: NKX2-5

Linked Data

• dbSNP Id: rs757925015
• ExAC: 5:172660067 C / G
• gnomAD v2: 5-172660067-C-G
• gnomAD v4: 5-173233064-C-G
• MyVariant Identifiers: chr5:g.172660067C>G (hg19) ; chr5:g.173233064C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233064C>G , CM000667.2:g.173233064C>G	GRCh38
NC_000005.9:g.172660067C>G , CM000667.1:g.172660067C>G	GRCh37
NC_000005.8:g.172592673C>G	NCBI36
NG_013340.1:g.7249G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.480G>C MANE Select	ENSP00000327758.4:p.Gln160His
ENST00000329198.4:c.480G>C	ENSP00000327758.4:p.Gln160His
ENST00000424406.2:c.*433G>C	ENSP00000395378.2:n.*433G>C
ENST00000521848.1:c.*279G>C	ENSP00000427906.1:n.*279G>C
NM_001166175.1:c.*433G>C	NP_001159647.1:n.*433G>C
NM_001166176.1:c.*279G>C	NP_001159648.1:n.*279G>C
NM_004387.3:c.480G>C	NP_004378.1:p.Gln160His
NM_004387.4:c.480G>C MANE Select	NP_004378.1:p.Gln160His
NM_001166175.2:c.*433G>C	NP_001159647.1:n.*433G>C
NM_001166176.2:c.*279G>C	NP_001159648.1:n.*279G>C