Canonical Allele Identifier: CA453968452
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1234215859
MyVariant Identifiers: chr7:g.21788234C>A (hg19) chr7:g.21748616C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748616C>A , CM000669.2:g.21748616C>A GRCh38
NC_000007.13:g.21788234C>A , CM000669.1:g.21788234C>A GRCh37
NC_000007.12:g.21754759C>A NCBI36
NG_012886.2:g.210402C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8547C>A MANE Select ENSP00000475939.1:p.Gly2849=
ENST00000328843.10:c.8568C>A ENSP00000330671.7:p.Gly2856=
ENST00000409508.7:c.8547C>A ENSP00000475939.1:p.Gly2849=
ENST00000620169.4:c.8568C>A ENSP00000481693.1:p.Gly2856=
NM_001277115.1:c.8547C>A NP_001264044.1:p.Gly2849=
NM_001277115.2:c.8547C>A MANE Select NP_001264044.1:p.Gly2849=
Search 100 bp 5'
Search 100 bp 3'