Canonical Allele Identifier: CA16612073

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410855
• ClinVar RCV Id: RCV000469872 ; RCV002056712 ; RCV001160315
• dbSNP Id: rs376475480
• gnomAD v2: 7-21751418-C-T
• gnomAD v3: 7-21711800-C-T
• gnomAD v4: 7-21711800-C-T
• MyVariant Identifiers: chr7:g.21751418C>T (hg19) ; chr7:g.21711800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21711800C>T , CM000669.2:g.21711800C>T	GRCh38
NC_000007.13:g.21751418C>T , CM000669.1:g.21751418C>T	GRCh37
NC_000007.12:g.21717943C>T	NCBI36
NG_012886.2:g.173586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6923C>T MANE Select	ENSP00000475939.1:p.Pro2308Leu
ENST00000328843.10:c.6944C>T	ENSP00000330671.7:p.Pro2315Leu
ENST00000409508.7:c.6923C>T	ENSP00000475939.1:p.Pro2308Leu
ENST00000620169.4:c.6944C>T	ENSP00000481693.1:p.Pro2315Leu
NM_001277115.1:c.6923C>T	NP_001264044.1:p.Pro2308Leu
NM_001277115.2:c.6923C>T MANE Select	NP_001264044.1:p.Pro2308Leu