Canonical Allele Identifier: CA6275447

Gene: CRYAB

Linked Data

• dbSNP Id: rs374078061
• ExAC: 11:111779484 G / A
• gnomAD v2: 11-111779484-G-A
• gnomAD v3: 11-111908760-G-A
• gnomAD v4: 11-111908760-G-A
• MyVariant Identifiers: chr11:g.111779484G>A (hg19) ; chr11:g.111908760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111908760G>A , CM000673.2:g.111908760G>A	GRCh38
NC_000011.9:g.111779484G>A , CM000673.1:g.111779484G>A	GRCh37
NC_000011.8:g.111284694G>A	NCBI36
NG_009824.2:g.19963C>T
NG_033080.1:g.1025G>A
NG_009824.3:g.19963C>T
NG_033080.2:g.1025G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526167.5:c.*11C>T	ENSP00000434793.1:n.*11C>T
ENST00000526180.6:c.*4C>T	ENSP00000436051.1:n.*4C>T
ENST00000527899.6:c.*4C>T	ENSP00000436089.2:n.*4C>T
ENST00000528961.6:c.*4C>T	ENSP00000435960.1:n.*4C>T
ENST00000533280.6:c.*4C>T	ENSP00000435046.1:n.*4C>T
ENST00000533475.6:c.*4C>T	ENSP00000433560.1:n.*4C>T
ENST00000533879.2:c.*4C>T	ENSP00000435931.2:n.*4C>T
ENST00000533971.2:c.*1423C>T	ENSP00000434269.1:n.*1423C>T
ENST00000616970.5:c.*4C>T	ENSP00000483554.1:n.*4C>T
ENST00000650687.2:c.*4C>T MANE Select	ENSP00000499082.1:n.*4C>T
ENST00000651164.1:c.*4C>T	ENSP00000498735.1:n.*4C>T
ENST00000651650.1:c.*4C>T	ENSP00000498749.1:n.*4C>T
ENST00000652223.1:n.3277C>T
ENST00000652606.1:n.1850C>T
ENST00000227251.7:c.*4C>T	ENSP00000227251.3:n.*4C>T
ENST00000524660.1:c.323C>T
ENST00000525823.1:c.*4C>T	ENSP00000435411.1:n.*4C>T
ENST00000526180.5:c.*4C>T	ENSP00000436051.1:n.*4C>T
ENST00000527950.5:c.*4C>T	ENSP00000437149.1:n.*4C>T
ENST00000531198.5:c.*4C>T	ENSP00000434247.1:n.*4C>T
ENST00000533280.5:c.*4C>T	ENSP00000435046.1:n.*4C>T
ENST00000533475.5:c.*4C>T	ENSP00000433560.1:n.*4C>T
ENST00000616970.4:c.*4C>T	ENSP00000483554.1:n.*4C>T
NM_001289807.1:c.*4C>T	NP_001276736.1:n.*4C>T
NM_001289808.1:c.*4C>T	NP_001276737.1:n.*4C>T
NM_001885.2:c.*4C>T	NP_001876.1:n.*4C>T
XM_011542608.1:c.*4C>T	XP_011540910.1:n.*4C>T
XM_011542609.1:c.*4C>T	XP_011540911.1:n.*4C>T
NM_001330379.1:c.*4C>T	NP_001317308.1:n.*4C>T
NM_001289808.2:c.*4C>T MANE Select	NP_001276737.1:n.*4C>T
NM_001368245.1:c.*4C>T	NP_001355174.1:n.*4C>T
NM_001368246.1:c.*4C>T	NP_001355175.1:n.*4C>T
NM_001885.3:c.*4C>T	NP_001876.1:n.*4C>T