Canonical Allele Identifier: CA4182677

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 226579
• ClinVar RCV Id: RCV000213329 ; RCV000231725 ; RCV000426049 ; RCV003615825
• dbSNP Id: rs182389910
• ExAC: 7:21901501 G / A
• gnomAD v2: 7-21901501-G-A
• gnomAD v3: 7-21861883-G-A
• gnomAD v4: 7-21861883-G-A
• MyVariant Identifiers: chr7:g.21901501G>A (hg19) ; chr7:g.21861883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21861883G>A , CM000669.2:g.21861883G>A	GRCh38
NC_000007.13:g.21901501G>A , CM000669.1:g.21901501G>A	GRCh37
NC_000007.12:g.21868026G>A	NCBI36
NG_012886.2:g.323669G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11233G>A MANE Select	ENSP00000475939.1:p.Glu3745Lys
ENST00000328843.10:c.11254G>A	ENSP00000330671.7:p.Glu3752Lys
ENST00000409508.7:c.11233G>A	ENSP00000475939.1:p.Glu3745Lys
ENST00000421290.1:n.416G>A
ENST00000607413.5:n.496G>A
ENST00000620169.4:c.11254G>A	ENSP00000481693.1:p.Glu3752Lys
NM_001277115.1:c.11233G>A	NP_001264044.1:p.Glu3745Lys
NM_001277115.2:c.11233G>A MANE Select	NP_001264044.1:p.Glu3745Lys