Canonical Allele Identifier: CA4181457

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 525220
• ClinVar RCV Id: RCV000629268 ; RCV001555784
• dbSNP Id: rs187533108
• ExAC: 7:21781723 T / C
• gnomAD v2: 7-21781723-T-C
• gnomAD v3: 7-21742105-T-C
• gnomAD v4: 7-21742105-T-C
• MyVariant Identifiers: chr7:g.21781723T>C (hg19) ; chr7:g.21742105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21742105T>C , CM000669.2:g.21742105T>C	GRCh38
NC_000007.13:g.21781723T>C , CM000669.1:g.21781723T>C	GRCh37
NC_000007.12:g.21748248T>C	NCBI36
NG_012886.2:g.203891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8093T>C MANE Select	ENSP00000475939.1:p.Leu2698Ser
ENST00000328843.10:c.8114T>C	ENSP00000330671.7:p.Leu2705Ser
ENST00000409508.7:c.8093T>C	ENSP00000475939.1:p.Leu2698Ser
ENST00000605912.1:c.474+2432T>C	ENSP00000476068.1:n.474+2432T>C
ENST00000620169.4:c.8114T>C	ENSP00000481693.1:p.Leu2705Ser
NM_001277115.1:c.8093T>C	NP_001264044.1:p.Leu2698Ser
NM_001277115.2:c.8093T>C MANE Select	NP_001264044.1:p.Leu2698Ser