Canonical Allele Identifier: CA175749

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163121
• ClinVar RCV Id: RCV000150452 ; RCV000366779 ; RCV001657854 ; RCV001705982
• dbSNP Id: rs4722064
• ExAC: 7:21893993 G / T
• gnomAD v2: 7-21893993-G-T
• gnomAD v3: 7-21854375-G-T
• gnomAD v4: 7-21854375-G-T
• MyVariant Identifiers: chr7:g.21893993G>T (hg19) ; chr7:g.21854375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21854375G>T , CM000669.2:g.21854375G>T	GRCh38
NC_000007.13:g.21893993G>T , CM000669.1:g.21893993G>T	GRCh37
NC_000007.12:g.21860518G>T	NCBI36
NG_012886.2:g.316161G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.11122G>T MANE Select	ENSP00000475939.1:p.Val3708Leu
ENST00000328843.10:c.11143G>T	ENSP00000330671.7:p.Val3715Leu
ENST00000409508.7:c.11122G>T	ENSP00000475939.1:p.Val3708Leu
ENST00000421290.1:n.305G>T
ENST00000607413.5:n.385G>T
ENST00000620169.4:c.11143G>T	ENSP00000481693.1:p.Val3715Leu
NM_001277115.1:c.11122G>T	NP_001264044.1:p.Val3708Leu
NM_001277115.2:c.11122G>T MANE Select	NP_001264044.1:p.Val3708Leu