Canonical Allele Identifier: CA102646189
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs748749823
MyVariant Identifiers: chr4:g.100341893T>G (hg19) chr4:g.99420736T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420736T>G , CM000666.2:g.99420736T>G GRCh38
NC_000004.11:g.100341893T>G , CM000666.1:g.100341893T>G GRCh37
NC_000004.10:g.100560916T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.622A>C MANE Select ENSP00000414254.2:p.Ile208Leu
ENST00000209665.8:c.658A>C ENSP00000209665.4:p.Ile220Leu
ENST00000437033.6:c.622A>C ENSP00000414254.2:p.Ile208Leu
ENST00000476959.5:c.682A>C ENSP00000420269.1:p.Ile228Leu
ENST00000482593.5:c.451A>C ENSP00000420613.1:p.Ile151Leu
NM_000673.4:c.658A>C NP_000664.2:p.Ile220Leu
NM_001166504.1:c.682A>C NP_001159976.1:p.Ile228Leu
NM_000673.7:c.622A>C MANE Select NP_000664.3:p.Ile208Leu
NM_001166504.2:c.682A>C NP_001159976.1:p.Ile228Leu
Search 100 bp 5'
Search 100 bp 3'