Canonical Allele Identifier: CA3789181
Gene: DNAH8 HGNC NCBI

Linked Data

ClinVar Variation Id: 525217
ClinVar RCV Id: RCV000629265
dbSNP Id: rs375507271
ExAC: 6:38810444 G / T
gnomAD v2: 6-38810444-G-T
gnomAD v3: 6-38842668-G-T
gnomAD v4: 6-38842668-G-T
MyVariant Identifiers: chr6:g.38810444G>T (hg19) chr6:g.38842668G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38842668G>T , CM000668.2:g.38842668G>T GRCh38
NC_000006.11:g.38810444G>T , CM000668.1:g.38810444G>T GRCh37
NC_000006.10:g.38918422G>T NCBI36
NG_041805.1:g.132328G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327475.11:c.4610G>T MANE Select ENSP00000333363.7:p.Arg1537Leu
ENST00000327475.10:c.4610G>T ENSP00000333363.7:p.Arg1537Leu
ENST00000359357.7:c.3959G>T ENSP00000352312.3:p.Arg1320Leu
ENST00000449981.6:c.4610G>T ENSP00000415331.2:p.Arg1537Leu
NM_001206927.1:c.4610G>T NP_001193856.1:p.Arg1537Leu
XM_011514318.1:c.4547G>T XP_011512620.1:p.Arg1516Leu
XM_011514319.1:c.4610G>T XP_011512621.1:p.Arg1537Leu
XM_011514320.1:c.4373G>T XP_011512622.1:p.Arg1458Leu
XM_011514321.1:c.3959G>T XP_011512623.1:p.Arg1320Leu
XM_011514322.1:c.4610G>T XP_011512624.1:p.Arg1537Leu
XR_926078.1:n.4727G>T
NM_001371.3:c.3959G>T NP_001362.2:p.Arg1320Leu
XM_011514318.2:c.4547G>T XP_011512620.1:p.Arg1516Leu
XM_011514319.2:c.4610G>T XP_011512621.1:p.Arg1537Leu
XM_011514320.2:c.4373G>T XP_011512622.1:p.Arg1458Leu
XM_017010325.1:c.4610G>T XP_016865814.1:p.Arg1537Leu
XM_017010326.1:c.4610G>T XP_016865815.1:p.Arg1537Leu
XM_017010327.1:c.4610G>T XP_016865816.1:p.Arg1537Leu
XR_001743188.1:n.4731G>T
XR_926078.2:n.4730G>T
NM_001206927.2:c.4610G>T MANE Select NP_001193856.1:p.Arg1537Leu
NM_001371.4:c.3959G>T NP_001362.2:p.Arg1320Leu
Search 100 bp 5'
Search 100 bp 3'