Canonical Allele Identifier: CA179975

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 167000
• ClinVar RCV Id: RCV000153157 ; RCV000271550
• dbSNP Id: rs150631721
• ExAC: 7:21892164 C / T
• gnomAD v2: 7-21892164-C-T
• gnomAD v3: 7-21852546-C-T
• gnomAD v4: 7-21852546-C-T
• MyVariant Identifiers: chr7:g.21892164C>T (hg19) ; chr7:g.21852546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21852546C>T , CM000669.2:g.21852546C>T	GRCh38
NC_000007.13:g.21892164C>T , CM000669.1:g.21892164C>T	GRCh37
NC_000007.12:g.21858689C>T	NCBI36
NG_012886.2:g.314332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10976C>T MANE Select	ENSP00000475939.1:p.Ala3659Val
ENST00000328843.10:c.10997C>T	ENSP00000330671.7:p.Ala3666Val
ENST00000409508.7:c.10976C>T	ENSP00000475939.1:p.Ala3659Val
ENST00000421290.1:n.159C>T
ENST00000607413.5:n.239C>T
ENST00000620169.4:c.10997C>T	ENSP00000481693.1:p.Ala3666Val
NM_001277115.1:c.10976C>T	NP_001264044.1:p.Ala3659Val
NM_001277115.2:c.10976C>T MANE Select	NP_001264044.1:p.Ala3659Val