Canonical Allele Identifier: CA12180869
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10886716C>T , CM000668.2:g.10886716C>T GRCh38
NC_000006.11:g.10886949C>T , CM000668.1:g.10886949C>T GRCh37
NC_000006.10:g.10994935C>T NCBI36
NG_008970.1:g.150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480294.1:c.101-4797C>T ENSP00000417929.1:n.101-4797C>T