Canonical Allele Identifier: CA366955043
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs770483579
gnomAD v2: 7-21788202-C-G
gnomAD v4: 7-21748584-C-G
MyVariant Identifiers: chr7:g.21788202C>G (hg19) chr7:g.21748584C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748584C>G , CM000669.2:g.21748584C>G GRCh38
NC_000007.13:g.21788202C>G , CM000669.1:g.21788202C>G GRCh37
NC_000007.12:g.21754727C>G NCBI36
NG_012886.2:g.210370C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8515C>G MANE Select ENSP00000475939.1:p.Arg2839Gly
ENST00000328843.10:c.8536C>G ENSP00000330671.7:p.Arg2846Gly
ENST00000409508.7:c.8515C>G ENSP00000475939.1:p.Arg2839Gly
ENST00000620169.4:c.8536C>G ENSP00000481693.1:p.Arg2846Gly
NM_001277115.1:c.8515C>G NP_001264044.1:p.Arg2839Gly
NM_001277115.2:c.8515C>G MANE Select NP_001264044.1:p.Arg2839Gly
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