Canonical Allele Identifier: CA538495509

Gene: DNAH7

Linked Data

• dbSNP Id: rs1405263773
• gnomAD v2: 2-196651901-A-G
• gnomAD v4: 2-195787177-A-G
• MyVariant Identifiers: chr2:g.196651901A>G (hg19) ; chr2:g.195787177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787177A>G , CM000664.2:g.195787177A>G	GRCh38
NC_000002.11:g.196651901A>G , CM000664.1:g.196651901A>G	GRCh37
NC_000002.10:g.196360146A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10717-6T>C MANE Select	ENSP00000311273.6:n.10717-6T>C
ENST00000312428.10:c.10717-6T>C	ENSP00000311273.6:n.10717-6T>C
ENST00000409063.5:c.166-6T>C	ENSP00000386912.1:n.166-6T>C
NM_018897.2:c.10717-6T>C	NP_061720.2:n.10717-6T>C
XM_011511487.1:c.10717-6T>C	XP_011509789.1:n.10717-6T>C
XM_011511488.1:c.10597-6T>C	XP_011509790.1:n.10597-6T>C
XM_011511489.1:c.10579-6T>C	XP_011509791.1:n.10579-6T>C
XM_011511490.1:c.10492-6T>C	XP_011509792.1:n.10492-6T>C
XM_011511496.1:c.6361-6T>C	XP_011509798.1:n.6361-6T>C
XM_011511497.1:c.5089-6T>C	XP_011509799.1:n.5089-6T>C
XM_011511488.3:c.10597-6T>C	XP_011509790.1:n.10597-6T>C
XM_011511489.2:c.10579-6T>C	XP_011509791.1:n.10579-6T>C
XM_011511490.3:c.10492-6T>C	XP_011509792.1:n.10492-6T>C
XM_011511497.2:c.5089-6T>C	XP_011509799.1:n.5089-6T>C
XM_017004504.2:c.10444-6T>C	XP_016859993.1:n.10444-6T>C
NM_018897.3:c.10717-6T>C MANE Select	NP_061720.2:n.10717-6T>C