Canonical Allele Identifier: CA147729696

Gene:

Linked Data

• dbSNP Id: rs13209747
• gnomAD v2: 6-127115454-C-T
• gnomAD v3: 6-126794309-C-T
• gnomAD v4: 6-126794309-C-T
• MyVariant Identifiers: chr6:g.127115454C>T (hg19) ; chr6:g.126794309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.126794309C>T , CM000668.2:g.126794309C>T	GRCh38
NC_000006.11:g.127115454C>T , CM000668.1:g.127115454C>T	GRCh37
NC_000006.10:g.127157147C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000650727.1:n.1166+25083G>A
ENST00000650823.1:n.1251+25083G>A
ENST00000650876.1:n.831-33302G>A
ENST00000650906.1:n.1243-28952G>A
ENST00000651038.1:n.1604+25083G>A
ENST00000651273.1:n.1334+25083G>A
ENST00000651319.1:n.971+25083G>A
ENST00000651326.1:n.694-190844G>A
ENST00000651488.1:n.1472-19155G>A
ENST00000651745.1:n.751+25083G>A
ENST00000651795.1:n.1505+25083G>A
ENST00000651963.1:n.546+25083G>A
ENST00000652037.1:n.758+25083G>A
ENST00000652186.1:n.624-76835G>A
ENST00000652330.1:n.1258+25083G>A
ENST00000652460.1:n.929+25083G>A
ENST00000652545.1:n.1334+25083G>A