Canonical Allele Identifier: CA4182356

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454630
• ClinVar RCV Id: RCV000557412 ; RCV002490936
• dbSNP Id: rs748648201
• ExAC: 7:21856150 C / T
• gnomAD v2: 7-21856150-C-T
• gnomAD v3: 7-21816532-C-T
• gnomAD v4: 7-21816532-C-T
• MyVariant Identifiers: chr7:g.21856150C>T (hg19) ; chr7:g.21816532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816532C>T , CM000669.2:g.21816532C>T	GRCh38
NC_000007.13:g.21856150C>T , CM000669.1:g.21856150C>T	GRCh37
NC_000007.12:g.21822675C>T	NCBI36
NG_012886.2:g.278318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10398C>T MANE Select	ENSP00000475939.1:p.Ala3466=
ENST00000328843.10:c.10419C>T	ENSP00000330671.7:p.Ala3473=
ENST00000409508.7:c.10398C>T	ENSP00000475939.1:p.Ala3466=
ENST00000620169.4:c.10419C>T	ENSP00000481693.1:p.Ala3473=
NM_001277115.1:c.10398C>T	NP_001264044.1:p.Ala3466=
NM_001277115.2:c.10398C>T MANE Select	NP_001264044.1:p.Ala3466=