Canonical Allele Identifier: CA4180384

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257906
• ClinVar RCV Id: RCV000245700 ; RCV000322077
• dbSNP Id: rs75932225
• ExAC: 7:21721194 T / C
• gnomAD v2: 7-21721194-T-C
• gnomAD v3: 7-21681576-T-C
• gnomAD v4: 7-21681576-T-C
• MyVariant Identifiers: chr7:g.21721194T>C (hg19) ; chr7:g.21681576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21681576T>C , CM000669.2:g.21681576T>C	GRCh38
NC_000007.13:g.21721194T>C , CM000669.1:g.21721194T>C	GRCh37
NC_000007.12:g.21687719T>C	NCBI36
NG_012886.2:g.143362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5359T>C MANE Select	ENSP00000475939.1:p.Leu1787=
ENST00000328843.10:c.5374T>C	ENSP00000330671.7:p.Leu1792=
ENST00000409508.7:c.5359T>C	ENSP00000475939.1:p.Leu1787=
ENST00000620169.4:c.5374T>C	ENSP00000481693.1:p.Leu1792=
NM_001277115.1:c.5359T>C	NP_001264044.1:p.Leu1787=
NM_001277115.2:c.5359T>C MANE Select	NP_001264044.1:p.Leu1787=