Canonical Allele Identifier: CA564687699
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1222670692
gnomAD v2: 5-172659376-G-C
gnomAD v3: 5-173232373-G-C
gnomAD v4: 5-173232373-G-C
MyVariant Identifiers: chr5:g.172659376G>C (hg19) chr5:g.173232373G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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