Canonical Allele Identifier: CA150186000
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs571361727
gnomAD v2: 6-151987449-G-A
gnomAD v3: 6-151666314-G-A
gnomAD v4: 6-151666314-G-A
MyVariant Identifiers: chr6:g.151987449G>A (hg19) chr6:g.151666314G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151666314G>A , CM000668.2:g.151666314G>A GRCh38
NC_000006.11:g.151987449G>A , CM000668.1:g.151987449G>A GRCh37
NC_000006.10:g.152029142G>A NCBI36
NG_008493.2:g.14624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473497.5:n.73+9551G>A
XM_017010376.1:c.-202+9551G>A XP_016865865.1:n.-202+9551G>A
XM_017010377.1:c.-260-76G>A XP_016865866.1:n.-260-76G>A
XM_017010380.1:c.-71+9551G>A XP_016865869.1:n.-71+9551G>A
NM_001385568.1:c.-202+9551G>A NP_001372497.1:n.-202+9551G>A
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