Canonical Allele Identifier: CA366932265
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1274536065
gnomAD v2: 7-21598442-A-G
gnomAD v4: 7-21558824-A-G
MyVariant Identifiers: chr7:g.21598442A>G (hg19) chr7:g.21558824A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558824A>G , CM000669.2:g.21558824A>G GRCh38
NC_000007.13:g.21598442A>G , CM000669.1:g.21598442A>G GRCh37
NC_000007.12:g.21564967A>G NCBI36
NG_012886.2:g.20610A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.518A>G MANE Select ENSP00000475939.1:p.Asn173Ser
ENST00000328843.10:c.518A>G ENSP00000330671.7:p.Asn173Ser
ENST00000409508.7:c.518A>G ENSP00000475939.1:p.Asn173Ser
ENST00000620169.4:c.518A>G ENSP00000481693.1:p.Asn173Ser
NM_001277115.1:c.518A>G NP_001264044.1:p.Asn173Ser
NM_001277115.2:c.518A>G MANE Select NP_001264044.1:p.Asn173Ser
Search 100 bp 5'
Search 100 bp 3'