Canonical Allele Identifier: CA4181765

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454716
• ClinVar RCV Id: RCV000536038 ; RCV000658448 ; RCV003989554
• dbSNP Id: rs369875222
• ExAC: 7:21789912 C / G
• gnomAD v2: 7-21789912-C-G
• gnomAD v3: 7-21750294-C-G
• gnomAD v4: 7-21750294-C-G
• MyVariant Identifiers: chr7:g.21789912C>G (hg19) ; chr7:g.21750294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21750294C>G , CM000669.2:g.21750294C>G	GRCh38
NC_000007.13:g.21789912C>G , CM000669.1:g.21789912C>G	GRCh37
NC_000007.12:g.21756437C>G	NCBI36
NG_012886.2:g.212080C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8870C>G MANE Select	ENSP00000475939.1:p.Ala2957Gly
ENST00000328843.10:c.8891C>G	ENSP00000330671.7:p.Ala2964Gly
ENST00000409508.7:c.8870C>G	ENSP00000475939.1:p.Ala2957Gly
ENST00000620169.4:c.8891C>G	ENSP00000481693.1:p.Ala2964Gly
NM_001277115.1:c.8870C>G	NP_001264044.1:p.Ala2957Gly
NM_001277115.2:c.8870C>G MANE Select	NP_001264044.1:p.Ala2957Gly