Canonical Allele Identifier: CA4180105

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238920
• ClinVar RCV Id: RCV000228531 ; RCV000246818 ; RCV003615828
• dbSNP Id: rs73682656
• ExAC: 7:21675586 T / G
• gnomAD v2: 7-21675586-T-G
• gnomAD v3: 7-21635968-T-G
• gnomAD v4: 7-21635968-T-G
• MyVariant Identifiers: chr7:g.21675586T>G (hg19) ; chr7:g.21635968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21635968T>G , CM000669.2:g.21635968T>G	GRCh38
NC_000007.13:g.21675586T>G , CM000669.1:g.21675586T>G	GRCh37
NC_000007.12:g.21642111T>G	NCBI36
NG_012886.2:g.97754T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4598T>G MANE Select	ENSP00000475939.1:p.Ile1533Ser
ENST00000328843.10:c.4613T>G	ENSP00000330671.7:p.Ile1538Ser
ENST00000409508.7:c.4598T>G	ENSP00000475939.1:p.Ile1533Ser
ENST00000465593.1:n.624T>G
ENST00000620169.4:c.4613T>G	ENSP00000481693.1:p.Ile1538Ser
NM_001277115.1:c.4598T>G	NP_001264044.1:p.Ile1533Ser
NM_001277115.2:c.4598T>G MANE Select	NP_001264044.1:p.Ile1533Ser