Canonical Allele Identifier: CA290924184

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1047492242
• gnomAD v3: 17-44249694-G-C
• gnomAD v4: 17-44249694-G-C
• MyVariant Identifiers: chr17:g.42327062G>C (hg19) ; chr17:g.44249694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249694G>C , CM000679.2:g.44249694G>C	GRCh38
NC_000017.10:g.42327062G>C , CM000679.1:g.42327062G>C	GRCh37
NC_000017.9:g.39682588G>C	NCBI36
NG_007498.1:g.23441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*764C>G MANE Select	ENSP00000262418.6:n.*764C>G
ENST00000262418.10:c.*764C>G	ENSP00000262418.6:n.*764C>G
ENST00000399246.3:c.*764C>G	ENSP00000382190.3:n.*764C>G
ENST00000631130.1:c.-444C>G	ENSP00000486787.1:n.-444C>G
NM_000342.3:c.*764C>G	NP_000333.1:n.*764C>G
XM_005257593.3:c.*764C>G	XP_005257650.1:n.*764C>G
XM_011525129.1:c.*764C>G	XP_011523431.1:n.*764C>G
XM_005257593.5:c.*764C>G	XP_005257650.1:n.*764C>G
XM_011525129.2:c.*764C>G	XP_011523431.1:n.*764C>G
NM_000342.4:c.*764C>G MANE Select	NP_000333.1:n.*764C>G