Canonical Allele Identifier: CA101489359
Gene:

Linked Data

dbSNP Id: rs765257595
gnomAD v2: 4-90577018-G-C
gnomAD v3: 4-89655867-G-C
gnomAD v4: 4-89655867-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655867G>C , CM000666.2:g.89655867G>C GRCh38
NC_000004.11:g.90577018G>C , CM000666.1:g.90577018G>C GRCh37
NC_000004.10:g.90796041G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+27950G>C
XR_938987.1:n.688+27950G>C
XR_938988.1:n.554+27950G>C
XR_938990.1:n.299-35418G>C
XR_938991.1:n.434+27950G>C
XR_938994.1:n.779+27950G>C
XR_938995.1:n.613+27950G>C
XR_938986.2:n.459+27950G>C
XR_938987.2:n.748+27950G>C