Canonical Allele Identifier: CA4181623
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs767040686
ExAC: 7:21788163 G / A
gnomAD v2: 7-21788163-G-A
gnomAD v3: 7-21748545-G-A
gnomAD v4: 7-21748545-G-A
MyVariant Identifiers: chr7:g.21788163G>A (hg19) chr7:g.21748545G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748545G>A , CM000669.2:g.21748545G>A GRCh38
NC_000007.13:g.21788163G>A , CM000669.1:g.21788163G>A GRCh37
NC_000007.12:g.21754688G>A NCBI36
NG_012886.2:g.210331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8511-35G>A MANE Select ENSP00000475939.1:n.8511-35G>A
ENST00000328843.10:c.8532-35G>A ENSP00000330671.7:n.8532-35G>A
ENST00000409508.7:c.8511-35G>A ENSP00000475939.1:n.8511-35G>A
ENST00000620169.4:c.8532-35G>A ENSP00000481693.1:n.8532-35G>A
NM_001277115.1:c.8511-35G>A NP_001264044.1:n.8511-35G>A
NM_001277115.2:c.8511-35G>A MANE Select NP_001264044.1:n.8511-35G>A
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