Canonical Allele Identifier: CA4179588
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 238908
ClinVar RCV Id: RCV000232030 RCV003485566
dbSNP Id: rs575775297
ExAC: 7:21640660 G / A
gnomAD v2: 7-21640660-G-A
gnomAD v3: 7-21601042-G-A
gnomAD v4: 7-21601042-G-A
COSMIC: COSM5901481 COSM5901482
MyVariant Identifiers: chr7:g.21640660G>A (hg19) chr7:g.21601042G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21601042G>A , CM000669.2:g.21601042G>A GRCh38
NC_000007.13:g.21640660G>A , CM000669.1:g.21640660G>A GRCh37
NC_000007.12:g.21607185G>A NCBI36
NG_012886.2:g.62828G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.3288G>A MANE Select ENSP00000475939.1:p.Met1096Ile
ENST00000328843.10:c.3288G>A ENSP00000330671.7:p.Met1096Ile
ENST00000409508.7:c.3288G>A ENSP00000475939.1:p.Met1096Ile
ENST00000620169.4:c.3288G>A ENSP00000481693.1:p.Met1096Ile
NM_001277115.1:c.3288G>A NP_001264044.1:p.Met1096Ile
NM_001277115.2:c.3288G>A MANE Select NP_001264044.1:p.Met1096Ile
Search 100 bp 5'
Search 100 bp 3'