Canonical Allele Identifier: CA4178627

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359594
• ClinVar RCV Id: RCV000367750 ; RCV000869031
• dbSNP Id: rs781089233
• ExAC: 7:21583043 C / T
• gnomAD v2: 7-21583043-C-T
• gnomAD v3: 7-21543425-C-T
• gnomAD v4: 7-21543425-C-T
• MyVariant Identifiers: chr7:g.21583043C>T (hg19) ; chr7:g.21543425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21543425C>T , CM000669.2:g.21543425C>T	GRCh38
NC_000007.13:g.21583043C>T , CM000669.1:g.21583043C>T	GRCh37
NC_000007.12:g.21549568C>T	NCBI36
NG_012886.2:g.5211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.180C>T MANE Select	ENSP00000475939.1:p.Arg60=
ENST00000328843.10:c.180C>T	ENSP00000330671.7:p.Arg60=
ENST00000409508.7:c.180C>T	ENSP00000475939.1:p.Arg60=
ENST00000620169.4:c.180C>T	ENSP00000481693.1:p.Arg60=
NM_001277115.1:c.180C>T	NP_001264044.1:p.Arg60=
NM_001277115.2:c.180C>T MANE Select	NP_001264044.1:p.Arg60=