Canonical Allele Identifier: CA366932444
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1226560314
gnomAD v2: 7-21598510-A-G
gnomAD v4: 7-21558892-A-G
COSMIC: COSM3880094 COSM3880095
MyVariant Identifiers: chr7:g.21598510A>G (hg19) chr7:g.21558892A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558892A>G , CM000669.2:g.21558892A>G GRCh38
NC_000007.13:g.21598510A>G , CM000669.1:g.21598510A>G GRCh37
NC_000007.12:g.21565035A>G NCBI36
NG_012886.2:g.20678A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.586A>G MANE Select ENSP00000475939.1:p.Lys196Glu
ENST00000328843.10:c.586A>G ENSP00000330671.7:p.Lys196Glu
ENST00000409508.7:c.586A>G ENSP00000475939.1:p.Lys196Glu
ENST00000620169.4:c.586A>G ENSP00000481693.1:p.Lys196Glu
NM_001277115.1:c.586A>G NP_001264044.1:p.Lys196Glu
NM_001277115.2:c.586A>G MANE Select NP_001264044.1:p.Lys196Glu
Search 100 bp 5'
Search 100 bp 3'