Canonical Allele Identifier: CA16044214

Gene: DNAH7

Linked Data

• ClinVar Variation Id: 375378
• ClinVar RCV Id: RCV000416423
• dbSNP Id: rs1057519439
• MyVariant Identifiers: chr2:g.196651859A>G (hg19) ; chr2:g.195787135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787135A>G , CM000664.2:g.195787135A>G	GRCh38
NC_000002.11:g.196651859A>G , CM000664.1:g.196651859A>G	GRCh37
NC_000002.10:g.196360104A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10753T>C MANE Select	ENSP00000311273.6:p.Phe3585Leu
ENST00000312428.10:c.10753T>C	ENSP00000311273.6:p.Phe3585Leu
ENST00000409063.5:c.202T>C	ENSP00000386912.1:p.Phe68Leu
NM_018897.2:c.10753T>C	NP_061720.2:p.Phe3585Leu
XM_011511487.1:c.10753T>C	XP_011509789.1:p.Phe3585Leu
XM_011511488.1:c.10633T>C	XP_011509790.1:p.Phe3545Leu
XM_011511489.1:c.10615T>C	XP_011509791.1:p.Phe3539Leu
XM_011511490.1:c.10528T>C	XP_011509792.1:p.Phe3510Leu
XM_011511496.1:c.6397T>C	XP_011509798.1:p.Phe2133Leu
XM_011511497.1:c.5125T>C	XP_011509799.1:p.Phe1709Leu
XM_011511488.3:c.10633T>C	XP_011509790.1:p.Phe3545Leu
XM_011511489.2:c.10615T>C	XP_011509791.1:p.Phe3539Leu
XM_011511490.3:c.10528T>C	XP_011509792.1:p.Phe3510Leu
XM_011511497.2:c.5125T>C	XP_011509799.1:p.Phe1709Leu
XM_017004504.2:c.10480T>C	XP_016859993.1:p.Phe3494Leu
NM_018897.3:c.10753T>C MANE Select	NP_061720.2:p.Phe3585Leu