Canonical Allele Identifier: CA4182826

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 525291
• ClinVar RCV Id: RCV000629344
• dbSNP Id: rs763843747
• ExAC: 7:21906269 C / T
• gnomAD v2: 7-21906269-C-T
• gnomAD v3: 7-21866651-C-T
• gnomAD v4: 7-21866651-C-T
• COSMIC: COSM4620497 ; COSM4620498
• MyVariant Identifiers: chr7:g.21906269C>T (hg19) ; chr7:g.21866651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21866651C>T , CM000669.2:g.21866651C>T	GRCh38
NC_000007.13:g.21906269C>T , CM000669.1:g.21906269C>T	GRCh37
NC_000007.12:g.21872794C>T	NCBI36
NG_012886.2:g.328437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11678C>T MANE Select	ENSP00000475939.1:p.Thr3893Met
ENST00000328843.10:c.11699C>T	ENSP00000330671.7:p.Thr3900Met
ENST00000409508.7:c.11678C>T	ENSP00000475939.1:p.Thr3893Met
ENST00000620169.4:c.11699C>T	ENSP00000481693.1:p.Thr3900Met
NM_001277115.1:c.11678C>T	NP_001264044.1:p.Thr3893Met
NM_001277115.2:c.11678C>T MANE Select	NP_001264044.1:p.Thr3893Met