Canonical Allele Identifier: CA339234524

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 1678226
• ClinVar RCV Id: RCV002224817
• dbSNP Id: rs747483558
• gnomAD v2: 1-27877291-C-A
• gnomAD v4: 1-27550780-C-A
• MyVariant Identifiers: chr1:g.27877291C>A (hg19) ; chr1:g.27550780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27550780C>A , CM000663.2:g.27550780C>A	GRCh38
NC_000001.10:g.27877291C>A , CM000663.1:g.27877291C>A	GRCh37
NC_000001.9:g.27749878C>A	NCBI36
NG_034158.1:g.57715G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247087.10:c.1336G>T	ENSP00000247087.4:p.Val446Phe
ENST00000642245.1:c.1336G>T	ENSP00000495072.1:p.Val446Phe
ENST00000642416.1:c.1336G>T	ENSP00000494394.1:p.Val446Phe
ENST00000644989.1:c.1336G>T	ENSP00000495665.1:p.Val446Phe
ENST00000673934.1:c.1336G>T MANE Select	ENSP00000501218.1:p.Val446Phe
ENST00000247087.9:c.1336G>T	ENSP00000247087.4:p.Val446Phe
ENST00000374011.6:c.1336G>T	ENSP00000363123.2:p.Val446Phe
NM_001029882.3:c.1336G>T	NP_001025053.1:p.Val446Phe
XM_005245848.2:c.1336G>T	XP_005245905.1:p.Val446Phe
XM_005245849.2:c.1336G>T	XP_005245906.1:p.Val446Phe
XM_005245850.2:c.1336G>T	XP_005245907.1:p.Val446Phe
XM_005245851.2:c.1336G>T	XP_005245908.1:p.Val446Phe
XM_005245852.2:c.1336G>T	XP_005245909.1:p.Val446Phe
XM_011541255.1:c.1336G>T	XP_011539557.1:p.Val446Phe
XM_011541256.1:c.1336G>T	XP_011539558.1:p.Val446Phe
XM_011541257.1:c.1336G>T	XP_011539559.1:p.Val446Phe
XR_946609.1:n.2293G>T
XM_005245848.3:c.1336G>T	XP_005245905.1:p.Val446Phe
XM_005245849.3:c.1336G>T	XP_005245906.1:p.Val446Phe
XM_005245850.3:c.1336G>T	XP_005245907.1:p.Val446Phe
XM_005245851.3:c.1336G>T	XP_005245908.1:p.Val446Phe
XM_005245852.3:c.1336G>T	XP_005245909.1:p.Val446Phe
XM_011541256.2:c.1336G>T	XP_011539558.1:p.Val446Phe
XM_011541257.2:c.1336G>T	XP_011539559.1:p.Val446Phe
XM_024446461.1:c.1336G>T	XP_024302229.1:p.Val446Phe
XR_946609.2:n.2403G>T
NM_001371928.1:c.1336G>T MANE Select	NP_001358857.1:p.Val446Phe