Canonical Allele Identifier: CA4182347
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 3022691
ClinVar RCV Id: RCV003881877
dbSNP Id: rs752635123
ExAC: 7:21856126 G / A
gnomAD v2: 7-21856126-G-A
gnomAD v4: 7-21816508-G-A
MyVariant Identifiers: chr7:g.21856126G>A (hg19) chr7:g.21816508G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816508G>A , CM000669.2:g.21816508G>A GRCh38
NC_000007.13:g.21856126G>A , CM000669.1:g.21856126G>A GRCh37
NC_000007.12:g.21822651G>A NCBI36
NG_012886.2:g.278294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10374G>A MANE Select ENSP00000475939.1:p.Met3458Ile
ENST00000328843.10:c.10395G>A ENSP00000330671.7:p.Met3465Ile
ENST00000409508.7:c.10374G>A ENSP00000475939.1:p.Met3458Ile
ENST00000620169.4:c.10395G>A ENSP00000481693.1:p.Met3465Ile
NM_001277115.1:c.10374G>A NP_001264044.1:p.Met3458Ile
NM_001277115.2:c.10374G>A MANE Select NP_001264044.1:p.Met3458Ile
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