Canonical Allele Identifier: CA3791849
Gene: DNAH8 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39030327C>T , CM000668.2:g.39030327C>T GRCh38
NC_000006.11:g.38998103C>T , CM000668.1:g.38998103C>T GRCh37
NC_000006.10:g.39106081C>T NCBI36
NG_041805.1:g.319987C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327475.11:c.14059C>T MANE Select ENSP00000333363.7:p.Arg4687Ter
ENST00000327475.10:c.14059C>T ENSP00000333363.7:p.Arg4687Ter
ENST00000359357.7:c.13408C>T ENSP00000352312.3:p.Arg4470Ter
NM_001206927.1:c.14059C>T NP_001193856.1:p.Arg4687Ter
XM_011514318.1:c.13996C>T XP_011512620.1:p.Arg4666Ter
XM_011514319.1:c.13951C>T XP_011512621.1:p.Arg4651Ter
XM_011514320.1:c.13822C>T XP_011512622.1:p.Arg4608Ter
XM_011514321.1:c.13408C>T XP_011512623.1:p.Arg4470Ter
NM_001371.3:c.13408C>T NP_001362.2:p.Arg4470Ter
XM_011514318.2:c.13996C>T XP_011512620.1:p.Arg4666Ter
XM_011514319.2:c.13951C>T XP_011512621.1:p.Arg4651Ter
XM_011514320.2:c.13822C>T XP_011512622.1:p.Arg4608Ter
NM_001206927.2:c.14059C>T MANE Select NP_001193856.1:p.Arg4687Ter
NM_001371.4:c.13408C>T NP_001362.2:p.Arg4470Ter