Canonical Allele Identifier: CA453963469
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1387433439
gnomAD v2: 7-21639530-G-C
gnomAD v4: 7-21599912-G-C
MyVariant Identifiers: chr7:g.21639530G>C (hg19) chr7:g.21599912G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599912G>C , CM000669.2:g.21599912G>C GRCh38
NC_000007.13:g.21639530G>C , CM000669.1:g.21639530G>C GRCh37
NC_000007.12:g.21606055G>C NCBI36
NG_012886.2:g.61698G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2793G>C MANE Select ENSP00000475939.1:p.Leu931=
ENST00000328843.10:c.2793G>C ENSP00000330671.7:p.Leu931=
ENST00000409508.7:c.2793G>C ENSP00000475939.1:p.Leu931=
ENST00000620169.4:c.2793G>C ENSP00000481693.1:p.Leu931=
NM_001277115.1:c.2793G>C NP_001264044.1:p.Leu931=
NM_001277115.2:c.2793G>C MANE Select NP_001264044.1:p.Leu931=
Search 100 bp 5'
Search 100 bp 3'