Canonical Allele Identifier: CA363985748

Gene: DNAH8

Linked Data

• gnomAD v4: 6-38729958-G-C
• MyVariant Identifiers: chr6:g.38697734G>C (hg19) ; chr6:g.38729958G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38729958G>C , CM000668.2:g.38729958G>C	GRCh38
NC_000006.11:g.38697734G>C , CM000668.1:g.38697734G>C	GRCh37
NC_000006.10:g.38805712G>C	NCBI36
NG_041805.1:g.19618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.582G>C MANE Select	ENSP00000333363.7:p.Leu194Phe
ENST00000327475.10:c.582G>C	ENSP00000333363.7:p.Leu194Phe
ENST00000359357.7:c.-41-4516G>C	ENSP00000352312.3:n.-41-4516G>C
ENST00000373278.8:c.582G>C	ENSP00000362375.4:p.Leu194Phe
ENST00000449981.6:c.582G>C	ENSP00000415331.2:p.Leu194Phe
NM_001206927.1:c.582G>C	NP_001193856.1:p.Leu194Phe
XM_011514318.1:c.582G>C	XP_011512620.1:p.Leu194Phe
XM_011514319.1:c.582G>C	XP_011512621.1:p.Leu194Phe
XM_011514320.1:c.525+6487G>C	XP_011512622.1:n.525+6487G>C
XM_011514321.1:c.-41-4516G>C	XP_011512623.1:n.-41-4516G>C
XM_011514322.1:c.582G>C	XP_011512624.1:p.Leu194Phe
XR_926078.1:n.699G>C
NM_001371.3:c.-41-4516G>C	NP_001362.2:n.-41-4516G>C
XM_011514318.2:c.582G>C	XP_011512620.1:p.Leu194Phe
XM_011514319.2:c.582G>C	XP_011512621.1:p.Leu194Phe
XM_011514320.2:c.525+6487G>C	XP_011512622.1:n.525+6487G>C
XM_017010325.1:c.582G>C	XP_016865814.1:p.Leu194Phe
XM_017010326.1:c.582G>C	XP_016865815.1:p.Leu194Phe
XM_017010327.1:c.582G>C	XP_016865816.1:p.Leu194Phe
XR_001743188.1:n.703G>C
XR_926078.2:n.702G>C
NM_001206927.2:c.582G>C MANE Select	NP_001193856.1:p.Leu194Phe
NM_001371.4:c.-41-4516G>C	NP_001362.2:n.-41-4516G>C