Canonical Allele Identifier: CA2959448
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73411996G>C
GRCh37 chr4:g.74277713G>C
Revel Score:
ENST00000511370 0.214
ENST00000415165 0.477
ENST00000295897 (MANE Select) 0.576
ENST00000503124 0.576
ENST00000509063 0.576
ENST00000401494 0.576
ENST00000430202 0.576
gnomAD v2:
4:74277713 G / C
gnomAD v4:
chr4-73411996-G-C
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
dbSNP:
76454301
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73411996G>C , CM000666.2:g.73411996G>C GRCh38
NC_000004.11:g.74277713G>C , CM000666.1:g.74277713G>C GRCh37
NC_000004.10:g.74496577G>C NCBI36
NG_009291.1:g.12742G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.714G>C MANE Select ENSP00000295897.4:p.Trp238Cys
ENST00000295897.8:c.714G>C ENSP00000295897.4:p.Trp238Cys
ENST00000401494.7:c.369G>C ENSP00000384695.3:p.Trp123Cys
ENST00000415165.6:c.138G>C ENSP00000401820.2:p.Leu46Phe
ENST00000476441.6:c.311G>C ENSP00000423727.1:p.Gly104Ala
ENST00000503124.5:c.264G>C ENSP00000421027.1:p.Trp88Cys
ENST00000505649.5:n.400G>C
ENST00000507673.1:n.31G>C
ENST00000509063.5:c.714G>C ENSP00000422784.1:p.Trp238Cys
ENST00000511370.1:c.247G>C
ENST00000621085.4:c.490+2634G>C ENSP00000483421.1:n.490+2634G>C
ENST00000621628.4:c.486+2920G>C ENSP00000480485.1:n.486+2920G>C
NM_000477.5:c.714G>C NP_000468.1:p.Trp238Cys
NM_000477.6:c.714G>C NP_000468.1:p.Trp238Cys
NM_000477.7:c.714G>C MANE Select NP_000468.1:p.Trp238Cys
Search 100 bp 5'
Search 100 bp 3'