Canonical Allele Identifier: CA2035077

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195872391C>T , CM000664.2:g.195872391C>T	GRCh38
NC_000002.11:g.196737115C>T , CM000664.1:g.196737115C>T	GRCh37
NC_000002.10:g.196445360C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.6492G>A MANE Select	NP_061720.2:p.Met2164Ile
ENST00000312428.11:c.6492G>A MANE Select	ENSP00000311273.6:p.Met2164Ile
NM_018897.2:c.6492G>A	NP_061720.2:p.Met2164Ile
ENST00000312428.10:c.6492G>A	ENSP00000311273.6:p.Met2164Ile
XM_011511487.1:c.6492G>A	XP_011509789.1:p.Met2164Ile
XM_011511488.1:c.6372G>A	XP_011509790.1:p.Met2124Ile
XM_011511488.3:c.6372G>A	XP_011509790.1:p.Met2124Ile
XM_011511489.1:c.6354G>A	XP_011509791.1:p.Met2118Ile
XM_011511489.2:c.6354G>A	XP_011509791.1:p.Met2118Ile
XM_011511490.1:c.6267G>A	XP_011509792.1:p.Met2089Ile
XM_011511490.3:c.6267G>A	XP_011509792.1:p.Met2089Ile
XM_011511491.1:c.6492G>A	XP_011509793.1:p.Met2164Ile
XM_011511491.3:c.6492G>A	XP_011509793.1:p.Met2164Ile
XM_011511492.1:c.6492G>A	XP_011509794.1:p.Met2164Ile
XM_011511492.3:c.6492G>A	XP_011509794.1:p.Met2164Ile
XM_011511493.1:c.6492G>A	XP_011509795.1:p.Met2164Ile
XM_011511493.3:c.6492G>A	XP_011509795.1:p.Met2164Ile
XM_011511494.1:c.6492G>A	XP_011509796.1:p.Met2164Ile
XM_011511494.3:c.6492G>A	XP_011509796.1:p.Met2164Ile
XM_011511495.1:c.6492G>A	XP_011509797.1:p.Met2164Ile
XM_011511495.3:c.6492G>A	XP_011509797.1:p.Met2164Ile
XM_011511496.1:c.2136G>A	XP_011509798.1:p.Met712Ile
XM_011511497.1:c.864G>A	XP_011509799.1:p.Met288Ile
XM_011511497.2:c.864G>A	XP_011509799.1:p.Met288Ile
XM_017004504.2:c.6219G>A	XP_016859993.1:p.Met2073Ile
XR_922968.1:n.8053G>A
XR_922968.3:n.6593G>A