Canonical Allele Identifier: CA4183283

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454655
• ClinVar RCV Id: RCV000538299 ; RCV000987856
• dbSNP Id: rs775720394
• ExAC: 7:21938973 C / T
• gnomAD v2: 7-21938973-C-T
• gnomAD v3: 7-21899355-C-T
• gnomAD v4: 7-21899355-C-T
• COSMIC: COSM1088459
• MyVariant Identifiers: chr7:g.21938973C>T (hg19) ; chr7:g.21899355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21899355C>T , CM000669.2:g.21899355C>T	GRCh38
NC_000007.13:g.21938973C>T , CM000669.1:g.21938973C>T	GRCh37
NC_000007.12:g.21905498C>T	NCBI36
NG_012886.2:g.361141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13069C>T MANE Select	ENSP00000475939.1:p.Arg4357Ter
ENST00000328843.10:c.13090C>T	ENSP00000330671.7:p.Arg4364Ter
ENST00000409508.7:c.13069C>T	ENSP00000475939.1:p.Arg4357Ter
ENST00000479878.1:n.440C>T
ENST00000620169.4:c.13090C>T	ENSP00000481693.1:p.Arg4364Ter
NM_001277115.1:c.13069C>T	NP_001264044.1:p.Arg4357Ter
NM_001277115.2:c.13069C>T MANE Select	NP_001264044.1:p.Arg4357Ter