Canonical Allele Identifier: CA715739

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 2992283
• ClinVar RCV Id: RCV003855410
• dbSNP Id: rs754239206
• ExAC: 1:27876033 C / T
• gnomAD v2: 1-27876033-C-T
• gnomAD v3: 1-27549522-C-T
• gnomAD v4: 1-27549522-C-T
• MyVariant Identifiers: chr1:g.27876033C>T (hg19) ; chr1:g.27549522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27549522C>T , CM000663.2:g.27549522C>T	GRCh38
NC_000001.10:g.27876033C>T , CM000663.1:g.27876033C>T	GRCh37
NC_000001.9:g.27748620C>T	NCBI36
NG_034158.1:g.58973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247087.10:c.2594G>A	ENSP00000247087.4:p.Arg865Gln
ENST00000642245.1:c.2594G>A	ENSP00000495072.1:p.Arg865Gln
ENST00000642416.1:c.2594G>A	ENSP00000494394.1:p.Arg865Gln
ENST00000644989.1:c.2594G>A	ENSP00000495665.1:p.Arg865Gln
ENST00000673934.1:c.2594G>A MANE Select	ENSP00000501218.1:p.Arg865Gln
ENST00000247087.9:c.2594G>A	ENSP00000247087.4:p.Arg865Gln
ENST00000374011.6:c.2594G>A	ENSP00000363123.2:p.Arg865Gln
NM_001029882.3:c.2594G>A	NP_001025053.1:p.Arg865Gln
XM_005245848.2:c.2594G>A	XP_005245905.1:p.Arg865Gln
XM_005245849.2:c.2594G>A	XP_005245906.1:p.Arg865Gln
XM_005245850.2:c.2594G>A	XP_005245907.1:p.Arg865Gln
XM_005245851.2:c.2594G>A	XP_005245908.1:p.Arg865Gln
XM_005245852.2:c.2594G>A	XP_005245909.1:p.Arg865Gln
XM_011541255.1:c.2594G>A	XP_011539557.1:p.Arg865Gln
XM_011541256.1:c.2594G>A	XP_011539558.1:p.Arg865Gln
XM_011541257.1:c.2594G>A	XP_011539559.1:p.Arg865Gln
XR_946609.1:n.3551G>A
XM_005245848.3:c.2594G>A	XP_005245905.1:p.Arg865Gln
XM_005245849.3:c.2594G>A	XP_005245906.1:p.Arg865Gln
XM_005245850.3:c.2594G>A	XP_005245907.1:p.Arg865Gln
XM_005245851.3:c.2594G>A	XP_005245908.1:p.Arg865Gln
XM_005245852.3:c.2594G>A	XP_005245909.1:p.Arg865Gln
XM_011541256.2:c.2594G>A	XP_011539558.1:p.Arg865Gln
XM_011541257.2:c.2594G>A	XP_011539559.1:p.Arg865Gln
XM_024446461.1:c.2594G>A	XP_024302229.1:p.Arg865Gln
XR_946609.2:n.3661G>A
NM_001371928.1:c.2594G>A MANE Select	NP_001358857.1:p.Arg865Gln