Canonical Allele Identifier: CA2033953

Gene: DNAH7

Linked Data

• dbSNP Id: rs760867349
• ExAC: 2:196651871 C / T
• gnomAD v2: 2-196651871-C-T
• MyVariant Identifiers: chr2:g.196651871C>T (hg19) ; chr2:g.195787147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787147C>T , CM000664.2:g.195787147C>T	GRCh38
NC_000002.11:g.196651871C>T , CM000664.1:g.196651871C>T	GRCh37
NC_000002.10:g.196360116C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10741G>A MANE Select	ENSP00000311273.6:p.Gly3581Ser
ENST00000312428.10:c.10741G>A	ENSP00000311273.6:p.Gly3581Ser
ENST00000409063.5:c.190G>A	ENSP00000386912.1:p.Gly64Ser
NM_018897.2:c.10741G>A	NP_061720.2:p.Gly3581Ser
XM_011511487.1:c.10741G>A	XP_011509789.1:p.Gly3581Ser
XM_011511488.1:c.10621G>A	XP_011509790.1:p.Gly3541Ser
XM_011511489.1:c.10603G>A	XP_011509791.1:p.Gly3535Ser
XM_011511490.1:c.10516G>A	XP_011509792.1:p.Gly3506Ser
XM_011511496.1:c.6385G>A	XP_011509798.1:p.Gly2129Ser
XM_011511497.1:c.5113G>A	XP_011509799.1:p.Gly1705Ser
XM_011511488.3:c.10621G>A	XP_011509790.1:p.Gly3541Ser
XM_011511489.2:c.10603G>A	XP_011509791.1:p.Gly3535Ser
XM_011511490.3:c.10516G>A	XP_011509792.1:p.Gly3506Ser
XM_011511497.2:c.5113G>A	XP_011509799.1:p.Gly1705Ser
XM_017004504.2:c.10468G>A	XP_016859993.1:p.Gly3490Ser
NM_018897.3:c.10741G>A MANE Select	NP_061720.2:p.Gly3581Ser