Canonical Allele Identifier: CA4183372

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410839
• ClinVar RCV Id: RCV000465688 ; RCV001161198
• dbSNP Id: rs371929703
• ExAC: 7:21939648 C / T
• gnomAD v2: 7-21939648-C-T
• gnomAD v3: 7-21900030-C-T
• gnomAD v4: 7-21900030-C-T
• COSMIC: COSM1449992
• MyVariant Identifiers: chr7:g.21939648C>T (hg19) ; chr7:g.21900030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21900030C>T , CM000669.2:g.21900030C>T	GRCh38
NC_000007.13:g.21939648C>T , CM000669.1:g.21939648C>T	GRCh37
NC_000007.12:g.21906173C>T	NCBI36
NG_012886.2:g.361816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13213C>T MANE Select	ENSP00000475939.1:p.Arg4405Cys
ENST00000328843.10:c.13234C>T	ENSP00000330671.7:p.Arg4412Cys
ENST00000409508.7:c.13213C>T	ENSP00000475939.1:p.Arg4405Cys
ENST00000479878.1:n.584C>T
ENST00000620169.4:c.13234C>T	ENSP00000481693.1:p.Arg4412Cys
NM_001277115.1:c.13213C>T	NP_001264044.1:p.Arg4405Cys
NM_001277115.2:c.13213C>T MANE Select	NP_001264044.1:p.Arg4405Cys