Canonical Allele Identifier: CA370602763

Gene: NKX2-6

Linked Data

• MyVariant Identifiers: chr8:g.23560322C>G (hg19) ; chr8:g.23702809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.23702809C>G , CM000670.2:g.23702809C>G	GRCh38
NC_000008.10:g.23560322C>G , CM000670.1:g.23560322C>G	GRCh37
NC_000008.9:g.23616267C>G	NCBI36
NG_030636.1:g.8790G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325017.4:c.548G>C MANE Select	ENSP00000320089.3:p.Arg183Pro
ENST00000325017.3:c.548G>C	ENSP00000320089.3:p.Arg183Pro
NM_001136271.2:c.548G>C	NP_001129743.2:p.Arg183Pro
XR_001745842.1:n.1312+34059C>G
NM_001136271.3:c.548G>C MANE Select	NP_001129743.2:p.Arg183Pro