Canonical Allele Identifier: CA8600636

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260620G>C , CM000679.2:g.44260620G>C	GRCh38
NC_000017.10:g.42337988G>C , CM000679.1:g.42337988G>C	GRCh37
NC_000017.9:g.39693514G>C	NCBI36
NG_007498.1:g.12515C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.349+15C>G MANE Select	NP_000333.1:n.349+15C>G
ENST00000262418.12:c.349+15C>G MANE Select	ENSP00000262418.6:n.349+15C>G
NM_000342.3:c.349+15C>G	NP_000333.1:n.349+15C>G
ENST00000262418.10:c.349+15C>G	ENSP00000262418.6:n.349+15C>G
ENST00000399246.3:c.349+15C>G	ENSP00000382190.3:n.349+15C>G
ENST00000471005.5:n.283+15C>G
ENST00000497360.5:n.488+15C>G
XM_005257593.3:c.154+15C>G	XP_005257650.1:n.154+15C>G
XM_005257593.5:c.154+15C>G	XP_005257650.1:n.154+15C>G
XM_011525129.1:c.349+15C>G	XP_011523431.1:n.349+15C>G
XM_011525129.2:c.349+15C>G	XP_011523431.1:n.349+15C>G
XM_011525130.1:c.349+15C>G	XP_011523432.1:n.349+15C>G
XM_011525131.1:c.349+15C>G	XP_011523433.1:n.349+15C>G