Canonical Allele Identifier: CA382601296

Gene: CRYAB

Linked Data

• ClinVar Variation Id: 3221860
• ClinVar RCV Id: RCV004511183
• dbSNP Id: rs1264081192
• gnomAD v4: 11-111911715-C-A
• MyVariant Identifiers: chr11:g.111782439C>A (hg19) ; chr11:g.111911715C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111911715C>A , CM000673.2:g.111911715C>A	GRCh38
NC_000011.9:g.111782439C>A , CM000673.1:g.111782439C>A	GRCh37
NC_000011.8:g.111287649C>A	NCBI36
NG_009824.2:g.17008G>T
NG_033080.1:g.3980C>A
NG_009824.3:g.17008G>T
NG_033080.2:g.3980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526180.6:c.10G>T	ENSP00000436051.1:p.Ala4Ser
ENST00000527899.6:c.10G>T	ENSP00000436089.2:p.Ala4Ser
ENST00000533475.6:c.10G>T	ENSP00000433560.1:p.Ala4Ser
ENST00000533879.2:c.10G>T	ENSP00000435931.2:p.Ala4Ser
ENST00000533971.2:c.10G>T	ENSP00000434269.1:p.Ala4Ser
ENST00000616970.5:c.10G>T	ENSP00000483554.1:p.Ala4Ser
ENST00000650687.2:c.10G>T MANE Select	ENSP00000499082.1:p.Ala4Ser
ENST00000651164.1:c.10G>T	ENSP00000498735.1:p.Ala4Ser
ENST00000652223.1:n.322G>T
ENST00000652606.1:n.254G>T
ENST00000227251.7:c.10G>T	ENSP00000227251.3:p.Ala4Ser
ENST00000526180.5:c.10G>T	ENSP00000436051.1:p.Ala4Ser
ENST00000527899.5:c.10G>T	ENSP00000436089.1:p.Ala4Ser
ENST00000527950.5:c.10G>T	ENSP00000437149.1:p.Ala4Ser
ENST00000528628.5:c.10G>T	ENSP00000432182.1:p.Ala4Ser
ENST00000529647.5:c.10G>T	ENSP00000431754.1:p.Ala4Ser
ENST00000531198.5:c.10G>T	ENSP00000434247.1:p.Ala4Ser
ENST00000533475.5:c.10G>T	ENSP00000433560.1:p.Ala4Ser
ENST00000533879.1:c.10G>T	ENSP00000435931.1:p.Ala4Ser
ENST00000533971.1:c.10G>T	ENSP00000434269.1:p.Ala4Ser
ENST00000616970.4:c.10G>T	ENSP00000483554.1:p.Ala4Ser
NM_001289807.1:c.10G>T	NP_001276736.1:p.Ala4Ser
NM_001289808.1:c.10G>T	NP_001276737.1:p.Ala4Ser
NM_001885.2:c.10G>T	NP_001876.1:p.Ala4Ser
XM_011542608.1:c.10G>T	XP_011540910.1:p.Ala4Ser
NM_001289808.2:c.10G>T MANE Select	NP_001276737.1:p.Ala4Ser
NM_001368245.1:c.10G>T	NP_001355174.1:p.Ala4Ser
NM_001885.3:c.10G>T	NP_001876.1:p.Ala4Ser