Canonical Allele Identifier: CA368542083
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2429721
ClinVar RCV Id: RCV003127175
dbSNP Id: rs1803825502
MyVariant Identifiers: chr7:g.100244176G>C (hg19) chr7:g.100646553G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646553G>C , CM000669.2:g.100646553G>C GRCh38
NC_000007.13:g.100244176G>C , CM000669.1:g.100244176G>C GRCh37
NC_000007.12:g.100082112G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1111C>G MANE Select ENSP00000160382.5:p.Pro371Ala
ENST00000160382.9:c.1111C>G ENSP00000160382.5:p.Pro371Ala
ENST00000487125.1:n.673C>G
NM_016188.4:c.1111C>G NP_057272.1:p.Pro371Ala
XR_927476.1:n.1218C>G
NR_134539.1:n.1218C>G
NM_016188.5:c.1111C>G MANE Select NP_057272.1:p.Pro371Ala
NR_134539.2:n.1205C>G
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