Canonical Allele Identifier: CA773975243
Gene:

Linked Data

dbSNP Id: rs1261584821
gnomAD v3: 17-63498389-G-C
gnomAD v4: 17-63498389-G-C
MyVariant Identifiers: chr17:g.61575750G>C (hg19) chr17:g.63498389G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498389G>C , CM000679.2:g.63498389G>C GRCh38
NC_000017.10:g.61575750G>C , CM000679.1:g.61575750G>C GRCh37
NC_000017.9:g.58929482G>C NCBI36
NG_011648.1:g.26317G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1404G>C ENSP00000464149.1:n.1969+1404G>C
Search 100 bp 5'
Search 100 bp 3'