Canonical Allele Identifier: CA4182680

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257852
• ClinVar RCV Id: RCV000251097 ; RCV003650555
• dbSNP Id: rs370395919
• ExAC: 7:21901522 G / A
• gnomAD v2: 7-21901522-G-A
• gnomAD v3: 7-21861904-G-A
• gnomAD v4: 7-21861904-G-A
• MyVariant Identifiers: chr7:g.21901522G>A (hg19) ; chr7:g.21861904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21861904G>A , CM000669.2:g.21861904G>A	GRCh38
NC_000007.13:g.21901522G>A , CM000669.1:g.21901522G>A	GRCh37
NC_000007.12:g.21868047G>A	NCBI36
NG_012886.2:g.323690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11254G>A MANE Select	ENSP00000475939.1:p.Asp3752Asn
ENST00000328843.10:c.11275G>A	ENSP00000330671.7:p.Asp3759Asn
ENST00000409508.7:c.11254G>A	ENSP00000475939.1:p.Asp3752Asn
ENST00000421290.1:n.437G>A
ENST00000607413.5:n.517G>A
ENST00000620169.4:c.11275G>A	ENSP00000481693.1:p.Asp3759Asn
NM_001277115.1:c.11254G>A	NP_001264044.1:p.Asp3752Asn
NM_001277115.2:c.11254G>A MANE Select	NP_001264044.1:p.Asp3752Asn