Canonical Allele Identifier: CA4183255

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359692
• ClinVar RCV Id: RCV000313970 ; RCV003615836
• dbSNP Id: rs200860431
• ExAC: 7:21934632 C / T
• gnomAD v2: 7-21934632-C-T
• gnomAD v3: 7-21895014-C-T
• gnomAD v4: 7-21895014-C-T
• MyVariant Identifiers: chr7:g.21934632C>T (hg19) ; chr7:g.21895014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21895014C>T , CM000669.2:g.21895014C>T	GRCh38
NC_000007.13:g.21934632C>T , CM000669.1:g.21934632C>T	GRCh37
NC_000007.12:g.21901157C>T	NCBI36
NG_012886.2:g.356800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13049+15C>T MANE Select	ENSP00000475939.1:n.13049+15C>T
ENST00000328843.10:c.13070+15C>T	ENSP00000330671.7:n.13070+15C>T
ENST00000409508.7:c.13049+15C>T	ENSP00000475939.1:n.13049+15C>T
ENST00000479878.1:n.420+15C>T
ENST00000620169.4:c.13070+15C>T	ENSP00000481693.1:n.13070+15C>T
NM_001277115.1:c.13049+15C>T	NP_001264044.1:n.13049+15C>T
NM_001277115.2:c.13049+15C>T MANE Select	NP_001264044.1:n.13049+15C>T