Canonical Allele Identifier: CA12582828
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21703356A>G
GRCh37 chr7:g.21742974A>G
gnomAD v2:
7:21742974 A / G
gnomAD v3:
7:21703356 A / G
gnomAD v4:
chr7-21703356-A-G
Joint Max Group AF 0.13464193 (EAS)
Genomes Max Group AF 0.13504786 (EAS)
Exomes Max Group AF 0.04742563 (SAS)
dbSNP:
368331
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21703356A>G , CM000669.2:g.21703356A>G GRCh38
NC_000007.13:g.21742974A>G , CM000669.1:g.21742974A>G GRCh37
NC_000007.12:g.21709499A>G NCBI36
NG_012886.2:g.165142A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.6273+554A>G MANE Select ENSP00000475939.1:n.6273+554A>G
ENST00000328843.10:c.6294+554A>G ENSP00000330671.7:n.6294+554A>G
ENST00000409508.7:c.6273+554A>G ENSP00000475939.1:n.6273+554A>G
ENST00000465129.1:n.94-93A>G
ENST00000620169.4:c.6294+554A>G ENSP00000481693.1:n.6294+554A>G
NM_001277115.1:c.6273+554A>G NP_001264044.1:n.6273+554A>G
NM_001277115.2:c.6273+554A>G MANE Select NP_001264044.1:n.6273+554A>G
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