Canonical Allele Identifier: CA10635686

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 306146
• ClinVar RCV Id: RCV000260369 ; RCV000323641 ; RCV000362086
• dbSNP Id: rs41298129
• gnomAD v2: 11-76839371-A-G
• gnomAD v3: 11-77128325-A-G
• gnomAD v4: 11-77128325-A-G
• MyVariant Identifiers: chr11:g.76839371A>G (hg19) ; chr11:g.77128325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77128325A>G , CM000673.2:g.77128325A>G	GRCh38
NC_000011.9:g.76839371A>G , CM000673.1:g.76839371A>G	GRCh37
NC_000011.8:g.76517019A>G	NCBI36
NG_009086.1:g.5062A>G
NG_009086.2:g.5080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.-211A>G MANE Select	ENSP00000386331.3:n.-211A>G
ENST00000409619.6:c.-324A>G	ENSP00000386635.2:n.-324A>G
ENST00000409709.7:c.-211A>G	ENSP00000386331.3:n.-211A>G
ENST00000409893.5:c.-211A>G	ENSP00000386689.1:n.-211A>G
ENST00000458637.6:c.-211A>G	ENSP00000392185.2:n.-211A>G
ENST00000620575.4:c.-211A>G	ENSP00000477640.1:n.-211A>G
NM_000260.3:c.-211A>G	NP_000251.3:n.-211A>G
NM_001127179.2:c.-211A>G	NP_001120651.2:n.-211A>G
NM_001127180.1:c.-211A>G	NP_001120652.1:n.-211A>G
XM_005274012.2:c.-211A>G	XP_005274069.1:n.-211A>G
XM_006718558.2:c.-211A>G	XP_006718621.1:n.-211A>G
XM_006718559.2:c.-211A>G	XP_006718622.1:n.-211A>G
XM_006718560.2:c.-211A>G	XP_006718623.1:n.-211A>G
XM_006718561.2:c.-211A>G	XP_006718624.1:n.-211A>G
XM_011545044.1:c.-211A>G	XP_011543346.1:n.-211A>G
XM_011545045.1:c.-211A>G	XP_011543347.1:n.-211A>G
XM_011545047.1:c.-211A>G	XP_011543349.1:n.-211A>G
XM_011545048.1:c.-211A>G	XP_011543350.1:n.-211A>G
XM_011545049.1:c.-211A>G	XP_011543351.1:n.-211A>G
XM_011545051.1:c.-211A>G	XP_011543353.1:n.-211A>G
XM_011545052.1:c.-211A>G	XP_011543354.1:n.-211A>G
XR_949938.1:n.110A>G
XR_949941.1:n.110A>G
XR_949942.1:n.112A>G
XR_949943.1:n.112A>G
XM_011545044.2:c.-211A>G	XP_011543346.1:n.-211A>G
NM_000260.4:c.-211A>G MANE Select	NP_000251.3:n.-211A>G
NM_001127180.2:c.-211A>G	NP_001120652.1:n.-211A>G
NM_001369365.1:c.-324A>G	NP_001356294.1:n.-324A>G