Canonical Allele Identifier: CA400450564
Gene: CA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60155362G>T , CM000679.2:g.60155362G>T GRCh38
NC_000017.10:g.58232723G>T , CM000679.1:g.58232723G>T GRCh37
NC_000017.9:g.55587505G>T NCBI36
NG_012050.1:g.10422G>T
NG_012050.2:g.10422G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000717.5:c.107G>T MANE Select NP_000708.1:p.Cys36Phe
ENST00000300900.9:c.107G>T MANE Select ENSP00000300900.3:p.Cys36Phe
NM_000717.3:c.107G>T NP_000708.1:p.Cys36Phe
NM_000717.4:c.107G>T NP_000708.1:p.Cys36Phe
NR_137422.1:n.206G>T
NR_137422.2:n.169G>T
ENST00000300900.8:c.107G>T ENSP00000300900.3:p.Cys36Phe
ENST00000585705.5:n.200G>T
ENST00000586876.1:c.107G>T ENSP00000467465.1:p.Cys36Phe
ENST00000591725.1:c.-164G>T ENSP00000466964.1:n.-164G>T
XM_005257639.1:c.107G>T XP_005257696.1:p.Cys36Phe
XM_005257639.3:c.107G>T XP_005257696.1:p.Cys36Phe
XM_011525183.1:c.-164G>T XP_011523485.1:n.-164G>T
XM_011525183.2:c.-164G>T XP_011523485.1:n.-164G>T
XM_017025012.1:c.-164G>T XP_016880501.1:n.-164G>T
XR_001752604.2:n.200G>T
XR_001752605.2:n.200G>T
XR_001752606.2:n.200G>T
XR_001752607.2:n.200G>T
XR_001752608.2:n.200G>T
XR_001752609.2:n.200G>T
XR_001752610.2:n.200G>T