Canonical Allele Identifier: CA349933940

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651874A>T (hg19) ; chr2:g.195787150A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787150A>T , CM000664.2:g.195787150A>T	GRCh38
NC_000002.11:g.196651874A>T , CM000664.1:g.196651874A>T	GRCh37
NC_000002.10:g.196360119A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10738T>A MANE Select	ENSP00000311273.6:p.Tyr3580Asn
ENST00000312428.10:c.10738T>A	ENSP00000311273.6:p.Tyr3580Asn
ENST00000409063.5:c.187T>A	ENSP00000386912.1:p.Tyr63Asn
NM_018897.2:c.10738T>A	NP_061720.2:p.Tyr3580Asn
XM_011511487.1:c.10738T>A	XP_011509789.1:p.Tyr3580Asn
XM_011511488.1:c.10618T>A	XP_011509790.1:p.Tyr3540Asn
XM_011511489.1:c.10600T>A	XP_011509791.1:p.Tyr3534Asn
XM_011511490.1:c.10513T>A	XP_011509792.1:p.Tyr3505Asn
XM_011511496.1:c.6382T>A	XP_011509798.1:p.Tyr2128Asn
XM_011511497.1:c.5110T>A	XP_011509799.1:p.Tyr1704Asn
XM_011511488.3:c.10618T>A	XP_011509790.1:p.Tyr3540Asn
XM_011511489.2:c.10600T>A	XP_011509791.1:p.Tyr3534Asn
XM_011511490.3:c.10513T>A	XP_011509792.1:p.Tyr3505Asn
XM_011511497.2:c.5110T>A	XP_011509799.1:p.Tyr1704Asn
XM_017004504.2:c.10465T>A	XP_016859993.1:p.Tyr3489Asn
NM_018897.3:c.10738T>A MANE Select	NP_061720.2:p.Tyr3580Asn