Canonical Allele Identifier: CA2638189711

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249735-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249735A>G , CM000679.2:g.44249735A>G	GRCh38
NC_000017.10:g.42327103A>G , CM000679.1:g.42327103A>G	GRCh37
NC_000017.9:g.39682629A>G	NCBI36
NG_007498.1:g.23400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*723T>C MANE Select	ENSP00000262418.6:n.*723T>C
ENST00000262418.10:c.*723T>C	ENSP00000262418.6:n.*723T>C
ENST00000399246.3:c.*723T>C	ENSP00000382190.3:n.*723T>C
ENST00000631130.1:c.-485T>C	ENSP00000486787.1:n.-485T>C
NM_000342.3:c.*723T>C	NP_000333.1:n.*723T>C
XM_005257593.3:c.*723T>C	XP_005257650.1:n.*723T>C
XM_011525129.1:c.*723T>C	XP_011523431.1:n.*723T>C
XM_005257593.5:c.*723T>C	XP_005257650.1:n.*723T>C
XM_011525129.2:c.*723T>C	XP_011523431.1:n.*723T>C
NM_000342.4:c.*723T>C MANE Select	NP_000333.1:n.*723T>C