Canonical Allele Identifier: CA220638159

Gene:

Linked Data

• dbSNP Id: rs1042013998
• gnomAD v2: 11-34780905-T-C
• gnomAD v3: 11-34759358-T-C
• gnomAD v4: 11-34759358-T-C
• MyVariant Identifiers: chr11:g.34780905T>C (hg19) ; chr11:g.34759358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34759358T>C , CM000673.2:g.34759358T>C	GRCh38
NC_000011.9:g.34780905T>C , CM000673.1:g.34780905T>C	GRCh37
NC_000011.8:g.34737481T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428897.2:n.579+4751T>C
XR_931188.1:n.693+4751T>C
XR_931189.1:n.854+4751T>C
XR_931190.1:n.639+4751T>C
XR_931191.1:n.689+4751T>C
XR_001748174.1:n.855+4751T>C
XR_001748176.1:n.1016+4751T>C
XR_002957246.1:n.639+4751T>C