Canonical Allele Identifier: CA4182138

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359669
• ClinVar RCV Id: RCV000388352
• dbSNP Id: rs201494403
• ExAC: 7:21827146 C / G
• gnomAD v2: 7-21827146-C-G
• gnomAD v3: 7-21787528-C-G
• gnomAD v4: 7-21787528-C-G
• MyVariant Identifiers: chr7:g.21827146C>G (hg19) ; chr7:g.21787528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21787528C>G , CM000669.2:g.21787528C>G	GRCh38
NC_000007.13:g.21827146C>G , CM000669.1:g.21827146C>G	GRCh37
NC_000007.12:g.21793671C>G	NCBI36
NG_012886.2:g.249314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9869C>G MANE Select	ENSP00000475939.1:p.Ser3290Cys
ENST00000328843.10:c.9890C>G	ENSP00000330671.7:p.Ser3297Cys
ENST00000409508.7:c.9869C>G	ENSP00000475939.1:p.Ser3290Cys
ENST00000620169.4:c.9890C>G	ENSP00000481693.1:p.Ser3297Cys
NM_001277115.1:c.9869C>G	NP_001264044.1:p.Ser3290Cys
NM_001277115.2:c.9869C>G MANE Select	NP_001264044.1:p.Ser3290Cys